Linked Data
ClinVar Variation Id:
126971
dbSNP Id:
rs121908828
gnomAD v2:
2-96919844-C-T
gnomAD v4:
2-96254106-C-T
PubMed:
PMID:21156949
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96254106C>T , CM000664.2:g.96254106C>T | GRCh38 |
| NC_000002.11:g.96919844C>T , CM000664.1:g.96919844C>T | GRCh37 |
| NC_000002.10:g.96283571C>T | NCBI36 |
| NG_027695.1:g.16908G>A , LRG_528:g.16908G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258439.8:c.419G>A MANE Select | ENSP00000258439.3:p.Cys140Tyr | |
| ENST00000258439.7:c.419G>A | ENSP00000258439.2:p.Cys140Tyr | |
| ENST00000432959.1:c.419G>A | ENSP00000416660.1:p.Cys140Tyr | |
| ENST00000435268.1:c.167G>A | ENSP00000411810.1:p.Cys56Tyr | |
| NM_001193304.2:c.419G>A | NP_001180233.1:p.Cys140Tyr | |
| NM_017849.3:c.419G>A , LRG_528t1:c.419G>A | NP_060319.1:p.Cys140Tyr | |
| XM_017004450.1:c.-500G>A | XP_016859939.1:n.-500G>A | |
| XM_017004452.1:c.167G>A | XP_016859941.1:p.Cys56Tyr | |
| NM_001193304.3:c.419G>A | NP_001180233.1:p.Cys140Tyr | |
| NM_017849.4:c.419G>A MANE Select | NP_060319.1:p.Cys140Tyr |