Linked Data
ClinVar Variation Id:
1031844
ClinVar RCV Id:
RCV001333776
dbSNP Id:
rs1192553029
gnomAD v2:
19-36220956-C-T
gnomAD v3:
19-35730055-C-T
gnomAD v4:
19-35730055-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35730055C>T , CM000681.2:g.35730055C>T | GRCh38 |
| NC_000019.9:g.36220956C>T , CM000681.1:g.36220956C>T | GRCh37 |
| NC_000019.8:g.40912796C>T | NCBI36 |
| NG_052906.1:g.17037C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673918.2:c.4940C>T | ENSP00000501283.1:p.Ala1647Val | |
| ENST00000674114.2:c.2547C>T | ENSP00000501039.2:n.2547C>T | |
| ENST00000684977.1:c.224C>T | ENSP00000509384.1:p.Ala75Val | |
| ENST00000685168.1:c.432C>T | ||
| ENST00000689544.1:n.159C>T | ||
| ENST00000691421.1:c.227C>T | ENSP00000508674.1:p.Ala76Val | |
| ENST00000691855.1:c.4548C>T | ||
| ENST00000692961.1:c.5006C>T | ENSP00000509289.1:p.Ala1669Val | |
| ENST00000420124.4:c.5006C>T MANE Select | ENSP00000398837.2:p.Ala1669Val | |
| ENST00000673918.1:c.4940C>T | ENSP00000501283.1:p.Ala1647Val | |
| ENST00000674114.1:c.2328C>T | ||
| ENST00000420124.2:c.5006C>T | ENSP00000398837.1:p.Ala1669Val | |
| NM_014727.2:c.5006C>T | NP_055542.1:p.Ala1669Val | |
| XM_011527561.1:c.4940C>T | XP_011525863.1:p.Ala1647Val | |
| XM_011527562.1:c.5006C>T | XP_011525864.1:p.Ala1669Val | |
| XM_011527563.1:c.4730C>T | XP_011525865.1:p.Ala1577Val | |
| XM_011527561.2:c.4442C>T | XP_011525863.2:p.Ala1481Val | |
| XM_011527562.2:c.5006C>T | XP_011525864.1:p.Ala1669Val | |
| XM_017027544.1:c.5006C>T | XP_016883033.1:p.Ala1669Val | |
| XM_017027545.1:c.4442C>T | XP_016883034.1:p.Ala1481Val | |
| XM_017027546.1:c.1970C>T | XP_016883035.1:p.Ala657Val | |
| NM_014727.3:c.5006C>T MANE Select | NP_055542.1:p.Ala1669Val |