Linked Data
ClinVar Variation Id:
420899
ClinVar RCV Id:
RCV000480157
dbSNP Id:
rs1064794777
gnomAD v4:
13-110186481-C-T
COSMIC:
COSM2262956
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110186481C>T , CM000675.2:g.110186481C>T | GRCh38 |
| NC_000013.10:g.110838828C>T , CM000675.1:g.110838828C>T | GRCh37 |
| NC_000013.9:g.109636829C>T | NCBI36 |
| NG_011544.2:g.125669G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375820.10:c.1801G>A MANE Select | ENSP00000364979.4:p.Gly601Ser | |
| ENST00000649738.1:n.1931G>A | ||
| ENST00000375820.8:c.1801G>A | ENSP00000364979.4:p.Gly601Ser | |
| NM_001845.5:c.1801G>A | NP_001836.3:p.Gly601Ser | |
| XM_011521048.1:c.1609G>A | XP_011519350.1:p.Gly537Ser | |
| XM_011521048.2:c.1609G>A | XP_011519350.1:p.Gly537Ser | |
| NM_001845.6:c.1801G>A MANE Select | NP_001836.3:p.Gly601Ser |