Linked Data
ClinVar Variation Id:
12641
dbSNP Id:
rs121918673
ExAC:
17:36061127 G / C
gnomAD v2:
17-36061127-G-C
gnomAD v3:
17-37701122-G-C
gnomAD v4:
17-37701122-G-C
PubMed:
PMID:12161522
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.37701122G>C , CM000679.2:g.37701122G>C | GRCh38 |
| NC_000017.10:g.36061127G>C , CM000679.1:g.36061127G>C | GRCh37 |
| NC_000017.9:g.33135240G>C | NCBI36 |
| NG_013019.2:g.48985C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000617811.5:c.1395C>G MANE Select | ENSP00000480291.1:p.Ser465Arg | |
| ENST00000613727.4:c.1261+3795C>G | ENSP00000477524.1:n.1261+3795C>G | |
| ENST00000614313.4:c.1395C>G | ENSP00000482529.1:p.Ser465Arg | |
| ENST00000617272.4:c.*118C>G | ENSP00000478682.1:n.*118C>G | |
| ENST00000617811.4:c.1395C>G | ENSP00000480291.1:p.Ser465Arg | |
| ENST00000621123.4:c.1317C>G | ENSP00000482711.1:p.Ser439Arg | |
| NM_000458.3:c.1395C>G | NP_000449.1:p.Ser465Arg | |
| NM_001165923.3:c.1317C>G | NP_001159395.1:p.Ser439Arg | |
| NM_001304286.1:c.1261+3795C>G | NP_001291215.1:n.1261+3795C>G | |
| XM_011525160.1:c.1395C>G | XP_011523462.1:p.Ser465Arg | |
| XM_011525161.1:c.1340-1928C>G | XP_011523463.1:n.1340-1928C>G | |
| XM_011525164.1:c.1317C>G | XP_011523466.1:p.Ser439Arg | |
| NM_000458.4:c.1395C>G MANE Select | NP_000449.1:p.Ser465Arg | |
| NM_001165923.4:c.1317C>G | NP_001159395.1:p.Ser439Arg | |
| NM_001304286.2:c.1261+3795C>G | NP_001291215.1:n.1261+3795C>G |