Linked Data
ClinVar Variation Id:
2442859
ClinVar RCV Id:
RCV003150665
dbSNP Id:
rs1456073665
gnomAD v3:
20-46725188-T-C
gnomAD v4:
20-46725188-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46725188T>C , CM000682.2:g.46725188T>C | GRCh38 |
| NC_000020.10:g.45353827T>C , CM000682.1:g.45353827T>C | GRCh37 |
| NC_000020.9:g.44787234T>C | NCBI36 |
| NG_016284.1:g.20549T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359271.4:c.152T>C MANE Select | ENSP00000352216.2:p.Val51Ala | |
| ENST00000359271.3:c.152T>C | ENSP00000352216.2:p.Val51Ala | |
| ENST00000611837.1:n.304T>C | ||
| NM_030777.3:c.152T>C | NP_110404.1:p.Val51Ala | |
| XM_011529060.1:c.215T>C | XP_011527362.1:p.Val72Ala | |
| XM_011529061.1:c.161T>C | XP_011527363.1:p.Val54Ala | |
| XM_011529062.1:c.215T>C | XP_011527364.1:p.Val72Ala | |
| XM_011529063.1:c.215T>C | XP_011527365.1:p.Val72Ala | |
| XM_011529064.1:c.215T>C | XP_011527366.1:p.Val72Ala | |
| XM_011529065.1:c.215T>C | XP_011527367.1:p.Val72Ala | |
| XR_936641.1:n.351T>C | ||
| XM_011529060.2:c.215T>C | XP_011527362.1:p.Val72Ala | |
| XM_011529061.2:c.161T>C | XP_011527363.1:p.Val54Ala | |
| XM_011529062.2:c.215T>C | XP_011527364.1:p.Val72Ala | |
| XM_011529063.2:c.215T>C | XP_011527365.1:p.Val72Ala | |
| XM_011529064.2:c.215T>C | XP_011527366.1:p.Val72Ala | |
| XM_011529065.2:c.215T>C | XP_011527367.1:p.Val72Ala | |
| XM_017028087.2:c.152T>C | XP_016883576.1:p.Val51Ala | |
| XR_936641.2:n.338T>C | ||
| NM_030777.4:c.152T>C MANE Select | NP_110404.1:p.Val51Ala |