Linked Data
ClinVar Variation Id:
215022
dbSNP Id:
rs144148008
ExAC:
17:62492906 C / T
gnomAD v2:
17-62492906-C-T
gnomAD v3:
17-64496788-C-T
gnomAD v4:
17-64496788-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.64496788C>T , CM000679.2:g.64496788C>T | GRCh38 |
| NC_000017.10:g.62492906C>T , CM000679.1:g.62492906C>T | GRCh37 |
| NC_000017.9:g.59923368C>T | NCBI36 |
| NG_013029.1:g.5279G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539111.7:c.181G>A MANE Select | ENSP00000442563.2:p.Gly61Arg | |
| ENST00000585104.2:n.152G>A | ||
| ENST00000671755.1:c.152G>A | ||
| ENST00000673460.1:c.152G>A | ||
| ENST00000539111.6:c.181G>A | ENSP00000442563.2:p.Gly61Arg | |
| ENST00000585141.5:n.232G>A | ||
| NM_007215.3:c.181G>A | NP_009146.2:p.Gly61Arg | |
| XM_006721651.2:c.181G>A | XP_006721714.1:p.Gly61Arg | |
| XR_243630.1:n.232G>A | ||
| XR_934357.1:n.232G>A | ||
| XR_934358.1:n.232G>A | ||
| NM_007215.4:c.181G>A MANE Select | NP_009146.2:p.Gly61Arg |