Linked Data
ClinVar Variation Id:
93453
dbSNP Id:
rs398123530
gnomAD v2:
1-155208388-G-A
gnomAD v3:
1-155238597-G-A
gnomAD v4:
1-155238597-G-A
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155238597G>A , CM000663.2:g.155238597G>A | GRCh38 |
| NC_000001.10:g.155208388G>A , CM000663.1:g.155208388G>A | GRCh37 |
| NC_000001.9:g.153475012G>A | NCBI36 |
| NG_009783.1:g.11101C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368373.8:c.508C>T MANE Select | ENSP00000357357.3:p.Arg170Cys | |
| ENST00000327247.9:c.508C>T | ENSP00000314508.5:p.Arg170Cys | |
| ENST00000368373.7:c.508C>T | ENSP00000357357.3:p.Arg170Cys | |
| ENST00000427500.7:c.361C>T | ENSP00000402577.2:p.Arg121Cys | |
| ENST00000428024.3:c.247C>T | ENSP00000397986.2:p.Arg83Cys | |
| ENST00000460156.1:n.295C>T | ||
| ENST00000473570.5:n.829C>T | ||
| ENST00000484489.5:n.339+1376C>T | ||
| ENST00000491081.5:n.113C>T | ||
| ENST00000493842.5:n.846C>T | ||
| ENST00000497670.5:n.131C>T | ||
| NM_000157.3:c.508C>T | NP_000148.2:p.Arg170Cys | |
| NM_001005741.2:c.508C>T | NP_001005741.1:p.Arg170Cys | |
| NM_001005742.2:c.508C>T | NP_001005742.1:p.Arg170Cys | |
| NM_001171811.1:c.247C>T | NP_001165282.1:p.Arg83Cys | |
| NM_001171812.1:c.361C>T | NP_001165283.1:p.Arg121Cys | |
| XM_006711270.1:c.508C>T | XP_006711333.1:p.Arg170Cys | |
| XM_011509407.1:c.508C>T | XP_011507709.1:p.Arg170Cys | |
| NM_000157.4:c.508C>T MANE Select | NP_000148.2:p.Arg170Cys | |
| NM_001005741.3:c.508C>T | NP_001005741.1:p.Arg170Cys | |
| NM_001005742.3:c.508C>T | NP_001005742.1:p.Arg170Cys | |
| NM_001171811.2:c.247C>T | NP_001165282.1:p.Arg83Cys | |
| NM_001171812.2:c.361C>T | NP_001165283.1:p.Arg121Cys |