Linked Data
ClinVar Variation Id:
795395
ClinVar RCV Id:
RCV001488515
dbSNP Id:
rs922841572
gnomAD v2:
4-178363437-G-A
gnomAD v3:
4-177442283-G-A
gnomAD v4:
4-177442283-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177442283G>A , CM000666.2:g.177442283G>A | GRCh38 |
| NC_000004.11:g.178363437G>A , CM000666.1:g.178363437G>A | GRCh37 |
| NC_000004.10:g.178600431G>A | NCBI36 |
| NG_011845.2:g.5221C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264595.7:c.93C>T MANE Select | ENSP00000264595.2:p.Val31= | |
| ENST00000264595.6:c.93C>T | ENSP00000264595.2:p.Val31= | |
| ENST00000506853.5:n.127C>T | ||
| ENST00000510955.5:n.127C>T | ||
| ENST00000511231.1:n.127C>T | ||
| NM_000027.3:c.93C>T | NP_000018.2:p.Val31= | |
| NM_001171988.1:c.93C>T | NP_001165459.1:p.Val31= | |
| NR_033655.1:n.221C>T | ||
| XM_006714123.2:c.93C>T | XP_006714186.1:p.Val31= | |
| XR_001741155.2:n.187C>T | ||
| NM_000027.4:c.93C>T MANE Select | NP_000018.2:p.Val31= | |
| NM_001171988.2:c.93C>T | NP_001165459.1:p.Val31= | |
| NR_033655.2:n.155C>T |