Linked Data
ClinVar Variation Id:
2863501
ClinVar RCV Id:
RCV003759341
dbSNP Id:
rs760289994
ExAC:
2:38298186 C / T
gnomAD v2:
2-38298186-C-T
gnomAD v3:
2-38071043-C-T
gnomAD v4:
2-38071043-C-T
COSMIC:
COSM3183810
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38071043C>T , CM000664.2:g.38071043C>T | GRCh38 |
| NC_000002.11:g.38298186C>T , CM000664.1:g.38298186C>T | GRCh37 |
| NC_000002.10:g.38151690C>T | NCBI36 |
| NG_008386.2:g.10059G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490576.2:c.1311G>A | ENSP00000478839.2:p.Pro437= | |
| ENST00000610745.5:c.1311G>A MANE Select | ENSP00000478561.1:p.Pro437= | |
| ENST00000492443.1:n.689G>A | ||
| ENST00000494864.1:c.198G>A | ENSP00000479876.1:p.Pro66= | |
| ENST00000610745.4:c.1311G>A | ENSP00000478561.1:p.Pro437= | |
| ENST00000614273.1:c.1311G>A | ENSP00000483678.1:p.Pro437= | |
| NM_000104.3:c.1311G>A | NP_000095.2:p.Pro437= | |
| NM_000104.4:c.1311G>A MANE Select | NP_000095.2:p.Pro437= |