Linked Data
dbSNP Id:
rs550261161
ExAC:
19:15990424 G / A
gnomAD v2:
19-15990424-G-A
gnomAD v3:
19-15879614-G-A
gnomAD v4:
19-15879614-G-A
COSMIC:
COSM3403888
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15879614G>A , CM000681.2:g.15879614G>A | GRCh38 |
| NC_000019.9:g.15990424G>A , CM000681.1:g.15990424G>A | GRCh37 |
| NC_000019.8:g.15851424G>A | NCBI36 |
| NG_007971.2:g.23461C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221700.11:c.1304C>T MANE Select | ENSP00000221700.3:p.Pro435Leu | |
| ENST00000011989.11:c.1304C>T | ENSP00000011989.8:p.Pro435Leu | |
| ENST00000221700.10:c.1304C>T | ENSP00000221700.3:p.Pro435Leu | |
| ENST00000392846.7:n.1247C>T | ||
| ENST00000589654.2:c.103-186C>T | ||
| NM_001082.4:c.1304C>T | NP_001073.3:p.Pro435Leu | |
| NM_001082.5:c.1304C>T MANE Select | NP_001073.3:p.Pro435Leu |