Linked Data
ClinVar Variation Id:
449500
dbSNP Id:
rs200731870
ExAC:
2:152346553 G / A
gnomAD v2:
2-152346553-G-A
gnomAD v3:
2-151490039-G-A
gnomAD v4:
2-151490039-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.151490039G>A , CM000664.2:g.151490039G>A | GRCh38 |
| NC_000002.11:g.152346553G>A , CM000664.1:g.152346553G>A | GRCh37 |
| NC_000002.10:g.152054799G>A | NCBI36 |
| NG_009382.2:g.249449C>T , LRG_202:g.249449C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434685.6:c.3645C>T (NEB) | ||
| ENST00000688578.1:c.1935C>T (NEB) | ||
| ENST00000689642.1:n.1155C>T (NEB) | ||
| ENST00000690043.1:c.7041C>T (NEB) | ||
| ENST00000693000.1:n.3227C>T (NEB) | ||
| ENST00000397345.8:c.25336C>T (NEB) MANE Select | ENSP00000380505.3:p.Arg8446Ter | |
| ENST00000427231.7:c.25336C>T (NEB) MANE Plus Clinical | ENSP00000416578.2:p.Arg8446Ter | |
| ENST00000172853.14:c.19768C>T (NEB) | ENSP00000172853.10:p.Arg6590Ter | |
| ENST00000397337.6:c.1737C>T (NEB) | ||
| ENST00000397345.7:c.25336C>T (NEB) | ENSP00000380505.3:p.Arg8446Ter | |
| ENST00000409198.5:c.19768C>T (NEB) | ENSP00000386259.1:p.Arg6590Ter | |
| ENST00000413693.5:c.8782C>T (NEB) | ENSP00000410961.1:p.Arg2928Ter | |
| ENST00000427231.6:c.25336C>T (NEB) | ENSP00000416578.2:p.Arg8446Ter | |
| ENST00000434685.5:c.2058C>T (NEB) | ||
| ENST00000454583.6:c.2656-5190G>A (RIF1) | ||
| ENST00000457745.1:n.480+3283G>A (RIF1) | ||
| ENST00000603639.5:c.25336C>T (NEB) | ENSP00000473894.1:p.Arg8446Ter | |
| ENST00000604864.5:c.25336C>T (NEB) | ENSP00000474498.1:p.Arg8446Ter | |
| ENST00000618972.4:c.25441C>T (NEB) | ENSP00000484342.1:p.Arg8481Ter | |
| NM_001164507.1:c.25336C>T (NEB) | NP_001157979.1:p.Arg8446Ter | |
| NM_001164508.1:c.25336C>T (NEB) | NP_001157980.1:p.Arg8446Ter | |
| NM_001271208.1:c.25441C>T , LRG_202t1:c.25441C>T (NEB) | NP_001258137.1:p.Arg8481Ter | |
| NM_004543.4:c.19768C>T (NEB) | NP_004534.2:p.Arg6590Ter | |
| XM_005246590.1:c.25243C>T (NEB) | XP_005246647.1:p.Arg8415Ter | |
| XM_005246591.1:c.25243C>T (NEB) | XP_005246648.1:p.Arg8415Ter | |
| XM_005246592.1:c.25243C>T (NEB) | XP_005246649.1:p.Arg8415Ter | |
| XM_005246593.1:c.25243C>T (NEB) | XP_005246650.1:p.Arg8415Ter | |
| XM_005246594.1:c.25243C>T (NEB) | XP_005246651.1:p.Arg8415Ter | |
| XM_005246595.1:c.25243C>T (NEB) | XP_005246652.1:p.Arg8415Ter | |
| XM_005246596.1:c.25150C>T (NEB) | XP_005246653.1:p.Arg8384Ter | |
| XM_005246597.1:c.25150C>T (NEB) | XP_005246654.1:p.Arg8384Ter | |
| XM_005246598.1:c.25150C>T (NEB) | XP_005246655.1:p.Arg8384Ter | |
| XM_005246599.1:c.25057C>T (NEB) | XP_005246656.1:p.Arg8353Ter | |
| XM_005246600.1:c.25057C>T (NEB) | XP_005246657.1:p.Arg8353Ter | |
| XM_005246601.1:c.24964C>T (NEB) | XP_005246658.1:p.Arg8322Ter | |
| XM_005246602.1:c.24964C>T (NEB) | XP_005246659.1:p.Arg8322Ter | |
| XM_005246603.1:c.24871C>T (NEB) | XP_005246660.1:p.Arg8291Ter | |
| XM_005246604.1:c.24871C>T (NEB) | XP_005246661.1:p.Arg8291Ter | |
| XM_005246606.1:c.24871C>T (NEB) | XP_005246663.1:p.Arg8291Ter | |
| XM_005246608.1:c.24778C>T (NEB) | XP_005246665.1:p.Arg8260Ter | |
| XM_005246610.1:c.24685C>T (NEB) | XP_005246667.1:p.Arg8229Ter | |
| XM_005246611.1:c.24685C>T (NEB) | XP_005246668.1:p.Arg8229Ter | |
| XM_005246612.1:c.24607C>T (NEB) | XP_005246669.1:p.Arg8203Ter | |
| XM_005246613.1:c.24607C>T (NEB) | XP_005246670.1:p.Arg8203Ter | |
| XM_005246615.1:c.24592C>T (NEB) | XP_005246672.1:p.Arg8198Ter | |
| XM_005246617.1:c.22420C>T (NEB) | XP_005246674.1:p.Arg7474Ter | |
| XM_006712541.1:c.24871C>T (NEB) | XP_006712604.1:p.Arg8291Ter | |
| XM_006712542.1:c.24871C>T (NEB) | XP_006712605.1:p.Arg8291Ter | |
| XM_011511224.1:c.25243C>T (NEB) | XP_011509526.1:p.Arg8415Ter | |
| XM_011511225.1:c.24592C>T (NEB) | XP_011509527.1:p.Arg8198Ter | |
| XM_011511226.1:c.23149C>T (NEB) | XP_011509528.1:p.Arg7717Ter | |
| XM_011511227.1:c.20962C>T (NEB) | XP_011509529.1:p.Arg6988Ter | |
| XR_922954.1:n.7839-5190G>A (RIF1) | ||
| XR_922955.1:n.7838+6704G>A (RIF1) | ||
| XR_922956.1:n.7839-5190G>A (RIF1) | ||
| XR_922957.1:n.7838+6704G>A (RIF1) | ||
| XM_005246590.2:c.25243C>T (NEB) | XP_005246647.1:p.Arg8415Ter | |
| XM_005246591.2:c.25243C>T (NEB) | XP_005246648.1:p.Arg8415Ter | |
| XM_005246592.2:c.25243C>T (NEB) | XP_005246649.1:p.Arg8415Ter | |
| XM_005246593.2:c.25243C>T (NEB) | XP_005246650.1:p.Arg8415Ter | |
| XM_005246594.2:c.25243C>T (NEB) | XP_005246651.1:p.Arg8415Ter | |
| XM_005246596.2:c.25150C>T (NEB) | XP_005246653.1:p.Arg8384Ter | |
| XM_005246597.2:c.25150C>T (NEB) | XP_005246654.1:p.Arg8384Ter | |
| XM_005246598.2:c.25150C>T (NEB) | XP_005246655.1:p.Arg8384Ter | |
| XM_005246599.2:c.25057C>T (NEB) | XP_005246656.1:p.Arg8353Ter | |
| XM_005246601.2:c.24964C>T (NEB) | XP_005246658.1:p.Arg8322Ter | |
| XM_005246602.2:c.24964C>T (NEB) | XP_005246659.1:p.Arg8322Ter | |
| XM_005246603.2:c.24871C>T (NEB) | XP_005246660.1:p.Arg8291Ter | |
| XM_005246604.2:c.24871C>T (NEB) | XP_005246661.1:p.Arg8291Ter | |
| XM_005246606.2:c.24871C>T (NEB) | XP_005246663.1:p.Arg8291Ter | |
| XM_005246608.2:c.24778C>T (NEB) | XP_005246665.1:p.Arg8260Ter | |
| XM_005246610.2:c.24685C>T (NEB) | XP_005246667.1:p.Arg8229Ter | |
| XM_005246611.2:c.24685C>T (NEB) | XP_005246668.1:p.Arg8229Ter | |
| XM_005246612.2:c.24607C>T (NEB) | XP_005246669.1:p.Arg8203Ter | |
| XM_005246613.2:c.24607C>T (NEB) | XP_005246670.1:p.Arg8203Ter | |
| XM_005246615.2:c.24592C>T (NEB) | XP_005246672.1:p.Arg8198Ter | |
| XM_005246617.2:c.22420C>T (NEB) | XP_005246674.1:p.Arg7474Ter | |
| XM_006712541.2:c.24871C>T (NEB) | XP_006712604.1:p.Arg8291Ter | |
| XM_006712542.2:c.24871C>T (NEB) | XP_006712605.1:p.Arg8291Ter | |
| XM_011511225.2:c.24592C>T (NEB) | XP_011509527.1:p.Arg8198Ter | |
| XM_011511226.2:c.23149C>T (NEB) | XP_011509528.1:p.Arg7717Ter | |
| XM_011511227.2:c.20962C>T (NEB) | XP_011509529.1:p.Arg6988Ter | |
| XM_017004177.1:c.25225C>T (NEB) | XP_016859666.1:p.Arg8409Ter | |
| XM_017004178.1:c.25150C>T (NEB) | XP_016859667.1:p.Arg8384Ter | |
| XM_017004179.1:c.24871C>T (NEB) | XP_016859668.1:p.Arg8291Ter | |
| XM_017004180.1:c.24871C>T (NEB) | XP_016859669.1:p.Arg8291Ter | |
| XM_017004181.1:c.24778C>T (NEB) | XP_016859670.1:p.Arg8260Ter | |
| XM_017004182.1:c.24685C>T (NEB) | XP_016859671.1:p.Arg8229Ter | |
| XM_017004183.1:c.24592C>T (NEB) | XP_016859672.1:p.Arg8198Ter | |
| XM_017004184.1:c.24592C>T (NEB) | XP_016859673.1:p.Arg8198Ter | |
| XM_017004185.1:c.24313C>T (NEB) | XP_016859674.1:p.Arg8105Ter | |
| XR_001738811.2:n.8214-5190G>A (RIF1) | ||
| XR_001738812.2:n.8214-5190G>A (RIF1) | ||
| XR_001738813.2:n.8213+6704G>A (RIF1) | ||
| XR_001738814.2:n.8213+6704G>A (RIF1) | ||
| XR_001738815.2:n.8213+6704G>A (RIF1) | ||
| XR_001738816.2:n.8213+6704G>A (RIF1) | ||
| XR_001738817.2:n.8213+6704G>A (RIF1) | ||
| NM_001271208.2:c.25441C>T (NEB) | NP_001258137.2:p.Arg8481Ter | |
| NM_004543.5:c.19768C>T (NEB) | NP_004534.3:p.Arg6590Ter | |
| NM_001164507.2:c.25336C>T (NEB) MANE Plus Clinical | NP_001157979.2:p.Arg8446Ter | |
| NM_001164508.2:c.25336C>T (NEB) MANE Select | NP_001157980.2:p.Arg8446Ter |