Linked Data
ClinVar Variation Id:
2334194
ClinVar RCV Id:
RCV004179493
dbSNP Id:
rs998902460
gnomAD v2:
19-13941596-C-T
gnomAD v3:
19-13830782-C-T
gnomAD v4:
19-13830782-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13830782C>T , CM000681.2:g.13830782C>T | GRCh38 |
| NC_000019.9:g.13941596C>T , CM000681.1:g.13941596C>T | GRCh37 |
| NC_000019.8:g.13802596C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000590508.6:c.3053C>T MANE Select | ENSP00000468285.2:p.Ala1018Val | |
| ENST00000254323.6:c.2702C>T | ENSP00000254323.2:p.Ala901Val | |
| ENST00000590508.5:c.2429C>T | ENSP00000468285.1:p.Ala810Val | |
| NM_023072.2:c.2702C>T | NP_075560.2:p.Ala901Val | |
| XM_005260023.2:c.3053C>T | XP_005260080.1:p.Ala1018Val | |
| XM_005260023.3:c.3053C>T | XP_005260080.1:p.Ala1018Val | |
| XM_017027153.1:c.3101C>T | XP_016882642.1:p.Ala1034Val | |
| XM_017027154.1:c.3032C>T | XP_016882643.1:p.Ala1011Val | |
| XM_017027155.1:c.2933C>T | XP_016882644.1:p.Ala978Val | |
| XM_017027156.1:c.2519C>T | XP_016882645.1:p.Ala840Val | |
| XM_024451657.1:c.2861C>T | XP_024307425.1:p.Ala954Val | |
| NM_001367834.1:c.3053C>T | NP_001354763.1:p.Ala1018Val | |
| NM_001367834.2:c.3053C>T | NP_001354763.1:p.Ala1018Val | |
| NM_023072.3:c.2702C>T | NP_075560.2:p.Ala901Val | |
| NM_001367834.3:c.3053C>T MANE Select | NP_001354763.1:p.Ala1018Val |