Linked Data
ClinVar Variation Id:
310829
dbSNP Id:
rs368621387
ExAC:
12:994354 G / C
gnomAD v2:
12-994354-G-C
gnomAD v3:
12-885188-G-C
gnomAD v4:
12-885188-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.885188G>C , CM000674.2:g.885188G>C | GRCh38 |
| NC_000012.11:g.994354G>C , CM000674.1:g.994354G>C | GRCh37 |
| NC_000012.10:g.864615G>C | NCBI36 |
| NG_007984.2:g.137130G>C | |
| NG_007984.3:g.137130G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315939.11:c.4384G>C MANE Select | ENSP00000313059.6:p.Gly1462Arg | |
| ENST00000340908.9:c.5140G>C MANE Plus Clinical | ENSP00000341292.5:p.Gly1714Arg | |
| ENST00000675236.1:n.3279G>C | ||
| ENST00000675631.1:c.3163G>C | ENSP00000502415.1:p.Gly1055Arg | |
| ENST00000676347.1:c.1831G>C | ENSP00000501875.1:p.Gly611Arg | |
| ENST00000315939.10:c.4384G>C | ENSP00000313059.6:p.Gly1462Arg | |
| ENST00000340908.8:c.5140G>C | ENSP00000341292.5:p.Gly1714Arg | |
| ENST00000530271.6:c.5623G>C | ENSP00000433548.3:p.Gly1875Arg | |
| ENST00000535572.5:c.3643G>C | ENSP00000441972.1:p.Gly1215Arg | |
| ENST00000537687.5:c.5164G>C | ENSP00000444465.1:p.Gly1722Arg | |
| NM_001184985.1:c.5164G>C | NP_001171914.1:p.Gly1722Arg | |
| NM_014823.2:c.3643G>C | NP_055638.2:p.Gly1215Arg | |
| NM_018979.3:c.4384G>C | NP_061852.3:p.Gly1462Arg | |
| NM_213655.4:c.5140G>C | NP_998820.3:p.Gly1714Arg | |
| XM_006719003.1:c.4381G>C | XP_006719066.1:p.Gly1461Arg | |
| XM_011520997.1:c.5623G>C | XP_011519299.1:p.Gly1875Arg | |
| XM_011520998.1:c.5620G>C | XP_011519300.1:p.Gly1874Arg | |
| XM_011520999.1:c.5623G>C | XP_011519301.1:p.Gly1875Arg | |
| XM_011521000.1:c.5623G>C | XP_011519302.1:p.Gly1875Arg | |
| XM_011521001.1:c.5344G>C | XP_011519303.1:p.Gly1782Arg | |
| XM_011521002.1:c.5161G>C | XP_011519304.1:p.Gly1721Arg | |
| XM_011521003.1:c.4885G>C | XP_011519305.1:p.Gly1629Arg | |
| XM_011521004.1:c.4882G>C | XP_011519306.1:p.Gly1628Arg | |
| XM_011521005.1:c.4402G>C | XP_011519307.1:p.Gly1468Arg | |
| XM_011521006.1:c.4300G>C | XP_011519308.1:p.Gly1434Arg | |
| XM_011521007.1:c.4297G>C | XP_011519309.1:p.Gly1433Arg | |
| XM_011521008.1:c.3562G>C | XP_011519310.1:p.Gly1188Arg | |
| XM_011521009.1:c.3559G>C | XP_011519311.1:p.Gly1187Arg | |
| XM_006719003.2:c.4381G>C | XP_006719066.1:p.Gly1461Arg | |
| XM_011520997.3:c.5623G>C | XP_011519299.1:p.Gly1875Arg | |
| XM_011520998.2:c.5620G>C | XP_011519300.1:p.Gly1874Arg | |
| XM_011520999.2:c.5623G>C | XP_011519301.1:p.Gly1875Arg | |
| XM_011521000.2:c.5623G>C | XP_011519302.1:p.Gly1875Arg | |
| XM_011521001.2:c.5344G>C | XP_011519303.1:p.Gly1782Arg | |
| XM_011521002.2:c.5161G>C | XP_011519304.1:p.Gly1721Arg | |
| XM_011521003.2:c.4885G>C | XP_011519305.1:p.Gly1629Arg | |
| XM_011521004.2:c.4882G>C | XP_011519306.1:p.Gly1628Arg | |
| XM_011521005.2:c.4402G>C | XP_011519307.1:p.Gly1468Arg | |
| XM_011521006.2:c.4300G>C | XP_011519308.1:p.Gly1434Arg | |
| XM_011521007.2:c.4297G>C | XP_011519309.1:p.Gly1433Arg | |
| XM_011521008.2:c.3562G>C | XP_011519310.1:p.Gly1188Arg | |
| XM_011521009.2:c.3559G>C | XP_011519311.1:p.Gly1187Arg | |
| XM_017019834.1:c.3922G>C | XP_016875323.1:p.Gly1308Arg | |
| XM_017019835.1:c.3841G>C | XP_016875324.1:p.Gly1281Arg | |
| XM_017019836.1:c.3838G>C | XP_016875325.1:p.Gly1280Arg | |
| XM_017019837.1:c.3646G>C | XP_016875326.1:p.Gly1216Arg | |
| XM_017019838.1:c.3643G>C | XP_016875327.1:p.Gly1215Arg | |
| XM_017019839.1:c.3562G>C | XP_016875328.1:p.Gly1188Arg | |
| NM_018979.4:c.4384G>C MANE Select | NP_061852.3:p.Gly1462Arg | |
| NM_014823.3:c.3643G>C | NP_055638.2:p.Gly1215Arg | |
| NM_001184985.2:c.5164G>C | NP_001171914.1:p.Gly1722Arg | |
| NM_213655.5:c.5140G>C MANE Plus Clinical | NP_998820.3:p.Gly1714Arg |