Linked Data
ClinVar Variation Id:
17413
ClinVar RCV Id:
RCV002247362
dbSNP Id:
rs113994109
gnomAD v2:
13-110831717-C-T
gnomAD v4:
13-110179370-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110179370C>T , CM000675.2:g.110179370C>T | GRCh38 |
| NC_000013.10:g.110831717C>T , CM000675.1:g.110831717C>T | GRCh37 |
| NC_000013.9:g.109629718C>T | NCBI36 |
| NG_011544.2:g.132780G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375820.10:c.2245G>A MANE Select | ENSP00000364979.4:p.Gly749Ser | |
| ENST00000649738.1:n.2375G>A | ||
| ENST00000375820.8:c.2245G>A | ENSP00000364979.4:p.Gly749Ser | |
| NM_001845.5:c.2245G>A | NP_001836.3:p.Gly749Ser | |
| XM_011521048.1:c.2053G>A | XP_011519350.1:p.Gly685Ser | |
| XM_011521048.2:c.2053G>A | XP_011519350.1:p.Gly685Ser | |
| NM_001845.6:c.2245G>A MANE Select | NP_001836.3:p.Gly749Ser |