Linked Data
ClinVar Variation Id:
197058
dbSNP Id:
rs749903718
ExAC:
12:2783697 C / T
gnomAD v2:
12-2783697-C-T
gnomAD v3:
12-2674531-C-T
gnomAD v4:
12-2674531-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.2674531C>T , CM000674.2:g.2674531C>T | GRCh38 |
| NC_000012.11:g.2783697C>T , CM000674.1:g.2783697C>T | GRCh37 |
| NC_000012.10:g.2653958C>T | NCBI36 |
| NG_008801.2:g.708746C>T , LRG_334:g.708746C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335762.10:c.4802-10C>T | ENSP00000336982.5:n.4802-10C>T | |
| ENST00000399617.6:c.4727-10C>T | ENSP00000382526.1:n.4727-10C>T | |
| ENST00000399634.6:c.4694-10C>T | ENSP00000382542.2:n.4694-10C>T | |
| ENST00000406454.8:c.4727-10C>T | ENSP00000385896.3:n.4727-10C>T | |
| ENST00000682320.1:n.869-10C>T | ||
| ENST00000682336.1:c.4769-10C>T | ENSP00000507898.1:n.4769-10C>T | |
| ENST00000682462.1:c.4817-10C>T | ENSP00000507105.1:n.4817-10C>T | |
| ENST00000682544.1:c.4961-10C>T | ENSP00000507184.1:n.4961-10C>T | |
| ENST00000682686.1:c.4694-10C>T | ENSP00000507309.1:n.4694-10C>T | |
| ENST00000682835.1:c.4727-10C>T | ENSP00000507282.1:n.4727-10C>T | |
| ENST00000683482.1:c.4718-10C>T | ENSP00000507169.1:n.4718-10C>T | |
| ENST00000683781.1:c.4817-10C>T | ENSP00000507434.1:n.4817-10C>T | |
| ENST00000683824.1:c.4892-10C>T | ENSP00000507867.1:n.4892-10C>T | |
| ENST00000683840.1:c.4817-10C>T | ENSP00000507612.1:n.4817-10C>T | |
| ENST00000683956.1:c.4817-10C>T | ENSP00000506882.1:n.4817-10C>T | |
| ENST00000684467.1:n.1230-10C>T | ||
| ENST00000327702.12:c.4727-10C>T | ENSP00000329877.7:n.4727-10C>T | |
| ENST00000347598.9:c.4871-10C>T | ENSP00000266376.6:n.4871-10C>T | |
| ENST00000399603.6:c.4727-10C>T MANE Plus Clinical | ENSP00000382512.1:n.4727-10C>T | |
| ENST00000399641.6:c.4727-10C>T | ENSP00000382549.1:n.4727-10C>T | |
| ENST00000399655.6:c.4727-10C>T MANE Select | ENSP00000382563.1:n.4727-10C>T | |
| ENST00000327702.11:c.4727-10C>T | ENSP00000329877.7:n.4727-10C>T | |
| ENST00000335762.9:c.4802-10C>T | ENSP00000336982.5:n.4802-10C>T | |
| ENST00000344100.7:c.4840C>T | ENSP00000341092.3:p.Arg1614Cys | |
| ENST00000347598.8:c.4871-10C>T | ENSP00000266376.6:n.4871-10C>T | |
| ENST00000399591.5:c.4741C>T | ENSP00000382500.1:p.Arg1581Cys | |
| ENST00000399595.5:c.4741C>T | ENSP00000382504.1:p.Arg1581Cys | |
| ENST00000399597.5:c.4727-10C>T | ENSP00000382506.1:n.4727-10C>T | |
| ENST00000399601.5:c.4727-10C>T | ENSP00000382510.1:n.4727-10C>T | |
| ENST00000399603.5:c.4727-10C>T | ENSP00000382512.1:n.4727-10C>T | |
| ENST00000399606.5:c.4787-10C>T | ENSP00000382515.1:n.4787-10C>T | |
| ENST00000399617.5:c.4727-10C>T | ENSP00000382526.1:n.4727-10C>T | |
| ENST00000399621.5:c.4774C>T | ENSP00000382530.1:p.Arg1592Cys | |
| ENST00000399629.5:c.4778-10C>T | ENSP00000382537.1:n.4778-10C>T | |
| ENST00000399634.5:c.4727-10C>T | ENSP00000382542.1:n.4727-10C>T | |
| ENST00000399637.5:c.4774C>T | ENSP00000382546.1:p.Arg1592Cys | |
| ENST00000399638.5:c.4811-10C>T | ENSP00000382547.1:n.4811-10C>T | |
| ENST00000399641.5:c.4727-10C>T | ENSP00000382549.1:n.4727-10C>T | |
| ENST00000399644.5:c.4727-10C>T | ENSP00000382552.1:n.4727-10C>T | |
| ENST00000399649.5:c.4735C>T | ENSP00000382557.1:p.Arg1579Cys | |
| ENST00000399655.5:c.4727-10C>T | ENSP00000382563.1:n.4727-10C>T | |
| ENST00000402845.7:c.4774C>T | ENSP00000385724.3:p.Arg1592Cys | |
| ENST00000406454.7:c.4727-10C>T | ENSP00000385896.3:n.4727-10C>T | |
| ENST00000465934.1:n.271-10C>T | ||
| ENST00000613940.4:c.4250-10C>T | ENSP00000483335.1:n.4250-10C>T | |
| ENST00000615303.4:c.4394-10C>T | ENSP00000480922.1:n.4394-10C>T | |
| ENST00000615400.4:c.4394-10C>T | ENSP00000480292.1:n.4394-10C>T | |
| ENST00000616390.1:c.800-10C>T | ENSP00000482910.1:n.800-10C>T | |
| ENST00000620878.4:c.4217-10C>T | ENSP00000479029.1:n.4217-10C>T | |
| ENST00000621625.4:c.4250-10C>T | ENSP00000484796.1:n.4250-10C>T | |
| NM_000719.6:c.4727-10C>T , LRG_334t1:c.4727-10C>T | NP_000710.5:n.4727-10C>T | |
| NM_001129827.1:c.4871-10C>T , LRG_334t2:c.4871-10C>T | NP_001123299.1:n.4871-10C>T | |
| NM_001129829.1:c.4840C>T | NP_001123301.1:p.Arg1614Cys | |
| NM_001129830.2:c.4727-10C>T | NP_001123302.2:n.4727-10C>T | |
| NM_001129831.1:c.4811-10C>T | NP_001123303.1:n.4811-10C>T | |
| NM_001129832.1:c.4787-10C>T | NP_001123304.1:n.4787-10C>T | |
| NM_001129833.1:c.4774C>T | NP_001123305.1:p.Arg1592Cys | |
| NM_001129834.1:c.4774C>T | NP_001123306.1:p.Arg1592Cys | |
| NM_001129835.1:c.4774C>T | NP_001123307.1:p.Arg1592Cys | |
| NM_001129836.1:c.4778-10C>T | NP_001123308.1:n.4778-10C>T | |
| NM_001129837.1:c.4741C>T | NP_001123309.1:p.Arg1581Cys | |
| NM_001129838.1:c.4741C>T | NP_001123310.1:p.Arg1581Cys | |
| NM_001129839.1:c.4735C>T | NP_001123311.1:p.Arg1579Cys | |
| NM_001129840.1:c.4727-10C>T , LRG_334t4:c.4727-10C>T | NP_001123312.1:n.4727-10C>T | |
| NM_001129841.1:c.4727-10C>T | NP_001123313.1:n.4727-10C>T | |
| NM_001129842.1:c.4727-10C>T | NP_001123314.1:n.4727-10C>T | |
| NM_001129843.1:c.4727-10C>T | NP_001123315.1:n.4727-10C>T | |
| NM_001129844.1:c.4718-10C>T | NP_001123316.1:n.4718-10C>T | |
| NM_001129846.1:c.4694-10C>T | NP_001123318.1:n.4694-10C>T | |
| NM_001167623.1:c.4727-10C>T | NP_001161095.1:n.4727-10C>T | |
| NM_001167624.2:c.4727-10C>T | NP_001161096.2:n.4727-10C>T | |
| NM_001167625.1:c.4694-10C>T | NP_001161097.1:n.4694-10C>T | |
| NM_199460.3:c.4871-10C>T | NP_955630.3:n.4871-10C>T | |
| XM_006719017.1:c.4817-10C>T | XP_006719080.1:n.4817-10C>T | |
| XM_011521017.1:c.4018C>T | XP_011519319.1:p.Arg1340Cys | |
| XM_011521018.1:c.3463C>T | XP_011519320.1:p.Arg1155Cys | |
| XM_011521019.1:c.1573C>T | XP_011519321.1:p.Arg525Cys | |
| XM_011521020.1:c.4892-10C>T | XP_011519322.1:n.4892-10C>T | |
| XM_011521021.1:c.4727-10C>T | XP_011519323.1:n.4727-10C>T | |
| XM_011521022.1:c.4727-10C>T | XP_011519324.1:n.4727-10C>T | |
| XM_011521023.1:c.4802-10C>T | XP_011519325.1:n.4802-10C>T | |
| XM_006719017.2:c.4817-10C>T | XP_006719080.1:n.4817-10C>T | |
| XM_011521020.2:c.4892-10C>T | XP_011519322.1:n.4892-10C>T | |
| XM_011521023.3:c.4802-10C>T | XP_011519325.1:n.4802-10C>T | |
| XM_017019926.2:c.5221C>T | XP_016875415.1:p.Arg1741Cys | |
| XM_017019927.2:c.5221C>T | XP_016875416.1:p.Arg1741Cys | |
| XM_017019928.2:c.5221C>T | XP_016875417.1:p.Arg1741Cys | |
| XM_017019929.2:c.5174-10C>T | XP_016875418.1:n.5174-10C>T | |
| XM_017019930.2:c.5174-10C>T | XP_016875419.1:n.5174-10C>T | |
| XM_017019931.2:c.5090-10C>T | XP_016875420.1:n.5090-10C>T | |
| XM_017019932.2:c.4862-10C>T | XP_016875421.1:n.4862-10C>T | |
| XM_017019933.2:c.4979-10C>T | XP_016875422.1:n.4979-10C>T | |
| XM_017019934.2:c.4970-10C>T | XP_016875423.1:n.4970-10C>T | |
| XM_017019935.2:c.4970-10C>T | XP_016875424.1:n.4970-10C>T | |
| XM_017019936.2:c.4942C>T | XP_016875425.1:p.Arg1648Cys | |
| XM_017019937.2:c.4942C>T | XP_016875426.1:p.Arg1648Cys | |
| XM_017019938.2:c.4942C>T | XP_016875427.1:p.Arg1648Cys | |
| XM_017019939.2:c.4946-10C>T | XP_016875428.1:n.4946-10C>T | |
| XM_017019940.2:c.4909C>T | XP_016875429.1:p.Arg1637Cys | |
| XM_017019941.2:c.4903C>T | XP_016875430.1:p.Arg1635Cys | |
| XM_017019942.2:c.4895-10C>T | XP_016875431.1:n.4895-10C>T | |
| XM_017019943.2:c.4895-10C>T | XP_016875432.1:n.4895-10C>T | |
| XM_017019944.2:c.4895-10C>T | XP_016875433.1:n.4895-10C>T | |
| XM_017019945.2:c.4895-10C>T | XP_016875434.1:n.4895-10C>T | |
| XM_017019946.2:c.4895-10C>T | XP_016875435.1:n.4895-10C>T | |
| XM_017019947.2:c.4895-10C>T | XP_016875436.1:n.4895-10C>T | |
| XM_017019948.2:c.4895-10C>T | XP_016875437.1:n.4895-10C>T | |
| XM_017019949.2:c.4895-10C>T | XP_016875438.1:n.4895-10C>T | |
| XM_017019950.2:c.4889-10C>T | XP_016875439.1:n.4889-10C>T | |
| XM_017019951.2:c.4886-10C>T | XP_016875440.1:n.4886-10C>T | |
| XM_017019952.2:c.4862-10C>T | XP_016875441.1:n.4862-10C>T | |
| XM_017019953.1:c.4817-10C>T | XP_016875442.1:n.4817-10C>T | |
| XM_017019954.1:c.4817-10C>T | XP_016875443.1:n.4817-10C>T | |
| XM_017019955.2:c.4970-10C>T | XP_016875444.1:n.4970-10C>T | |
| NM_000719.7:c.4727-10C>T MANE Select | NP_000710.5:n.4727-10C>T | |
| NM_001129827.2:c.4871-10C>T | NP_001123299.1:n.4871-10C>T | |
| NM_001129830.3:c.4727-10C>T | NP_001123302.2:n.4727-10C>T | |
| NM_001129840.2:c.4727-10C>T | NP_001123312.1:n.4727-10C>T | |
| NM_001167623.2:c.4727-10C>T MANE Plus Clinical | NP_001161095.1:n.4727-10C>T | |
| NM_001129829.2:c.4840C>T | NP_001123301.1:p.Arg1614Cys | |
| NM_001129831.2:c.4811-10C>T | NP_001123303.1:n.4811-10C>T | |
| NM_001129832.2:c.4787-10C>T | NP_001123304.1:n.4787-10C>T | |
| NM_001129833.2:c.4774C>T | NP_001123305.1:p.Arg1592Cys | |
| NM_001129834.2:c.4774C>T | NP_001123306.1:p.Arg1592Cys | |
| NM_001129835.2:c.4774C>T | NP_001123307.1:p.Arg1592Cys | |
| NM_001129836.2:c.4778-10C>T | NP_001123308.1:n.4778-10C>T | |
| NM_001129837.2:c.4741C>T | NP_001123309.1:p.Arg1581Cys | |
| NM_001129838.2:c.4741C>T | NP_001123310.1:p.Arg1581Cys | |
| NM_001129839.2:c.4735C>T | NP_001123311.1:p.Arg1579Cys | |
| NM_001129841.2:c.4727-10C>T | NP_001123313.1:n.4727-10C>T | |
| NM_001129842.2:c.4727-10C>T | NP_001123314.1:n.4727-10C>T | |
| NM_001129843.2:c.4727-10C>T | NP_001123315.1:n.4727-10C>T | |
| NM_001129844.2:c.4718-10C>T | NP_001123316.1:n.4718-10C>T | |
| NM_001129846.2:c.4694-10C>T | NP_001123318.1:n.4694-10C>T | |
| NM_001167624.3:c.4727-10C>T | NP_001161096.2:n.4727-10C>T | |
| NM_001167625.2:c.4694-10C>T | NP_001161097.1:n.4694-10C>T | |
| NM_199460.4:c.4871-10C>T | NP_955630.3:n.4871-10C>T |