Linked Data
ClinVar Variation Id:
2139477
ClinVar RCV Id:
RCV003052616
dbSNP Id:
rs754164697
ExAC:
6:74351566 G / A
gnomAD v2:
6-74351566-G-A
gnomAD v3:
6-73641843-G-A
gnomAD v4:
6-73641843-G-A
COSMIC:
COSM5907431
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73641843G>A , CM000668.2:g.73641843G>A | GRCh38 |
| NC_000006.11:g.74351566G>A , CM000668.1:g.74351566G>A | GRCh37 |
| NC_000006.10:g.74408287G>A | NCBI36 |
| NG_008272.1:g.17172C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355773.6:c.373C>T MANE Select | ENSP00000348019.5:p.Pro125Ser | |
| ENST00000355773.5:c.373C>T | ENSP00000348019.5:p.Pro125Ser | |
| ENST00000481996.1:n.139C>T | ||
| NM_012434.4:c.373C>T | NP_036566.1:p.Pro125Ser | |
| XM_005248710.2:c.322C>T | XP_005248767.1:p.Pro108Ser | |
| XM_005248711.1:c.175C>T | XP_005248768.1:p.Pro59Ser | |
| XM_011535750.1:c.373C>T | XP_011534052.1:p.Pro125Ser | |
| XM_011535751.1:c.373C>T | XP_011534053.1:p.Pro125Ser | |
| NM_012434.5:c.373C>T MANE Select | NP_036566.1:p.Pro125Ser | |
| NM_001382629.1:c.142C>T | NP_001369558.1:p.Pro48Ser | |
| NM_001382630.1:c.373C>T | NP_001369559.1:p.Pro125Ser | |
| NM_001382631.1:c.394C>T | NP_001369560.1:p.Pro132Ser | |
| NM_001382632.1:c.373C>T | NP_001369561.1:p.Pro125Ser | |
| NM_001382633.1:c.373C>T | NP_001369562.1:p.Pro125Ser | |
| NM_001382634.1:c.373C>T | NP_001369563.1:p.Pro125Ser | |
| NM_001382635.1:c.373C>T | NP_001369564.1:p.Pro125Ser | |
| NM_001382636.1:c.142C>T | NP_001369565.1:p.Pro48Ser |