Linked Data
ClinVar Variation Id:
65146
dbSNP Id:
rs397515110
ExAC:
16:2138052 T / C
gnomAD v4:
16-2088051-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2088051T>C , CM000678.2:g.2088051T>C | GRCh38 |
| NC_000016.9:g.2138052T>C , CM000678.1:g.2138052T>C | GRCh37 |
| NC_000016.8:g.2078053T>C | NCBI36 |
| NG_005895.1:g.43746T>C , LRG_487:g.43746T>C | |
| NG_008617.1:g.55170A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3421T>C | ENSP00000455997.2:n.*3421T>C | |
| ENST00000642206.2:c.4919T>C | ENSP00000495146.2:p.Met1640Thr | |
| ENST00000642365.2:c.5069T>C | ENSP00000495459.2:p.Met1690Thr | |
| ENST00000644417.2:c.*5585T>C | ENSP00000493912.2:n.*5585T>C | |
| ENST00000646464.2:c.*7821T>C | ENSP00000496610.2:n.*7821T>C | |
| ENST00000219476.9:c.5072T>C MANE Select | ENSP00000219476.3:p.Met1691Thr | |
| ENST00000350773.9:c.5003T>C | ENSP00000344383.4:p.Met1668Thr | |
| ENST00000401874.7:c.4871T>C | ENSP00000384468.2:p.Met1624Thr | |
| ENST00000568454.6:c.4904T>C | ENSP00000454487.1:p.Met1635Thr | |
| ENST00000569110.2:c.1295T>C | ||
| ENST00000569930.2:n.2954T>C | ||
| ENST00000642365.1:c.3726T>C | ||
| ENST00000642561.1:c.4943T>C | ENSP00000495099.1:p.Met1648Thr | |
| ENST00000642791.1:n.669T>C | ||
| ENST00000642797.1:c.4874T>C | ENSP00000493846.1:p.Met1625Thr | |
| ENST00000642936.1:c.4940T>C | ENSP00000494514.1:p.Met1647Thr | |
| ENST00000643088.1:c.4865T>C | ENSP00000494747.1:p.Met1622Thr | |
| ENST00000643426.1:n.2720T>C | ||
| ENST00000643946.1:c.4997T>C | ENSP00000495927.1:p.Met1666Thr | |
| ENST00000644043.1:c.4943T>C | ENSP00000496262.1:p.Met1648Thr | |
| ENST00000644329.1:c.4871T>C | ENSP00000496611.1:p.Met1624Thr | |
| ENST00000644335.1:c.4868T>C | ENSP00000496317.1:p.Met1623Thr | |
| ENST00000644399.1:c.4993T>C | ||
| ENST00000645024.1:n.3156T>C | ||
| ENST00000646388.1:c.5066T>C | ENSP00000495921.1:p.Met1689Thr | |
| ENST00000646634.1:n.3887T>C | ||
| ENST00000646674.1:n.2324T>C | ||
| ENST00000647042.1:n.2295T>C | ||
| ENST00000647180.1:n.2185T>C | ||
| ENST00000219476.7:c.5072T>C | ENSP00000219476.3:p.Met1691Thr | |
| ENST00000350773.8:c.5003T>C | ENSP00000344383.4:p.Met1668Thr | |
| ENST00000382538.10:c.4727T>C | ENSP00000371978.6:p.Met1576Thr | |
| ENST00000401874.6:c.4871T>C | ENSP00000384468.2:p.Met1624Thr | |
| ENST00000439117.6:c.*4239T>C | ENSP00000406980.2:n.*4239T>C | |
| ENST00000439673.6:c.4763T>C | ENSP00000399232.2:p.Met1588Thr | |
| ENST00000497886.5:n.2795T>C | ||
| ENST00000568454.5:c.4904T>C | ENSP00000454487.1:p.Met1635Thr | |
| ENST00000569110.1:c.1254T>C | ||
| ENST00000569930.1:n.2187T>C | ||
| NM_000548.3:c.5072T>C , LRG_487t1:c.5072T>C | NP_000539.2:p.Met1691Thr | |
| NM_001077183.1:c.4871T>C | NP_001070651.1:p.Met1624Thr | |
| NM_001114382.1:c.5003T>C | NP_001107854.1:p.Met1668Thr | |
| XM_005255529.3:c.4943T>C | XP_005255586.2:p.Met1648Thr | |
| XM_005255531.3:c.4874T>C | XP_005255588.2:p.Met1625Thr | |
| XM_011522636.1:c.5126T>C | XP_011520938.1:p.Met1709Thr | |
| XM_011522637.1:c.5123T>C | XP_011520939.1:p.Met1708Thr | |
| XM_011522638.1:c.5015T>C | XP_011520940.1:p.Met1672Thr | |
| XM_011522639.1:c.4997T>C | XP_011520941.1:p.Met1666Thr | |
| XM_011522640.1:c.4994T>C | XP_011520942.1:p.Met1665Thr | |
| XM_011522641.1:c.4763T>C | XP_011520943.1:p.Met1588Thr | |
| NM_000548.4:c.5072T>C | NP_000539.2:p.Met1691Thr | |
| NM_001077183.2:c.4871T>C | NP_001070651.1:p.Met1624Thr | |
| NM_001114382.2:c.5003T>C | NP_001107854.1:p.Met1668Thr | |
| NM_001318827.1:c.4763T>C | NP_001305756.1:p.Met1588Thr | |
| NM_001318829.1:c.4727T>C | NP_001305758.1:p.Met1576Thr | |
| NM_001318831.1:c.4340T>C | NP_001305760.1:p.Met1447Thr | |
| NM_001318832.1:c.4904T>C | NP_001305761.1:p.Met1635Thr | |
| NM_001363528.1:c.4874T>C | NP_001350457.1:p.Met1625Thr | |
| NM_021055.2:c.4943T>C | NP_066399.2:p.Met1648Thr | |
| XM_005255531.4:c.4874T>C | XP_005255588.2:p.Met1625Thr | |
| XM_011522636.2:c.5126T>C | XP_011520938.1:p.Met1709Thr | |
| XM_011522637.2:c.5123T>C | XP_011520939.1:p.Met1708Thr | |
| XM_011522638.2:c.5288T>C | XP_011520940.2:p.Met1763Thr | |
| XM_011522639.2:c.4997T>C | XP_011520941.1:p.Met1666Thr | |
| XM_011522640.2:c.4994T>C | XP_011520942.1:p.Met1665Thr | |
| XM_017023615.1:c.5069T>C | XP_016879104.1:p.Met1690Thr | |
| XM_017023616.1:c.4940T>C | XP_016879105.1:p.Met1647Thr | |
| XM_017023617.1:c.5036T>C | XP_016879106.1:p.Met1679Thr | |
| XM_017023618.1:c.3782T>C | XP_016879107.1:p.Met1261Thr | |
| XM_024450413.1:c.4871T>C | XP_024306181.1:p.Met1624Thr | |
| NM_000548.5:c.5072T>C MANE Select | NP_000539.2:p.Met1691Thr | |
| NM_001370404.1:c.4940T>C | NP_001357333.1:p.Met1647Thr | |
| NM_001370405.1:c.4943T>C | NP_001357334.1:p.Met1648Thr | |
| NM_001077183.3:c.4871T>C | NP_001070651.1:p.Met1624Thr | |
| NM_001114382.3:c.5003T>C | NP_001107854.1:p.Met1668Thr | |
| NM_001318827.2:c.4763T>C | NP_001305756.1:p.Met1588Thr | |
| NM_001318829.2:c.4727T>C | NP_001305758.1:p.Met1576Thr | |
| NM_001318831.2:c.4340T>C | NP_001305760.1:p.Met1447Thr | |
| NM_001318832.2:c.4904T>C | NP_001305761.1:p.Met1635Thr | |
| NM_001363528.2:c.4874T>C | NP_001350457.1:p.Met1625Thr | |
| NM_021055.3:c.4943T>C | NP_066399.2:p.Met1648Thr |