Linked Data
ClinVar Variation Id:
12261
ClinVar RCV Id:
RCV002251324
dbSNP Id:
rs121917771
gnomAD v4:
16-20348537-C-T
PubMed:
PMID:12629136
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.20348537C>T , CM000678.2:g.20348537C>T | GRCh38 |
| NC_000016.9:g.20359859C>T , CM000678.1:g.20359859C>T | GRCh37 |
| NC_000016.8:g.20267360C>T | NCBI36 |
| NG_008151.1:g.9179G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396138.9:c.764G>A MANE Select | ENSP00000379442.5:p.Cys255Tyr | |
| ENST00000302509.8:c.764G>A | ENSP00000306279.4:p.Cys255Tyr | |
| ENST00000396134.6:c.863G>A | ENSP00000379438.2:p.Cys288Tyr | |
| ENST00000396138.8:c.911G>A | ENSP00000379442.4:p.Cys304Tyr | |
| ENST00000570689.5:c.764G>A | ENSP00000460548.1:p.Cys255Tyr | |
| NM_001008389.2:c.764G>A | NP_001008390.1:p.Cys255Tyr | |
| NM_001278614.1:c.863G>A | NP_001265543.1:p.Cys288Tyr | |
| NM_003361.3:c.764G>A | NP_003352.2:p.Cys255Tyr | |
| XM_011545934.1:c.848G>A | XP_011544236.1:p.Cys283Tyr | |
| XM_011545935.1:c.764G>A | XP_011544237.1:p.Cys255Tyr | |
| XM_011545936.1:c.764G>A | XP_011544238.1:p.Cys255Tyr | |
| XM_011545937.1:c.764G>A | XP_011544239.1:p.Cys255Tyr | |
| XM_011545938.1:c.764G>A | XP_011544240.1:p.Cys255Tyr | |
| XM_011545939.1:c.848G>A | XP_011544241.1:p.Cys283Tyr | |
| XM_011545940.1:c.911G>A | XP_011544242.1:p.Cys304Tyr | |
| XM_011545934.2:c.764G>A | XP_011544236.2:p.Cys255Tyr | |
| XM_011545940.2:c.764G>A | XP_011544242.2:p.Cys255Tyr | |
| XM_024450433.1:c.764G>A | XP_024306201.1:p.Cys255Tyr | |
| NM_001008389.3:c.764G>A | NP_001008390.1:p.Cys255Tyr | |
| NM_001278614.2:c.863G>A | NP_001265543.1:p.Cys288Tyr | |
| NM_001378232.1:c.764G>A | NP_001365161.1:p.Cys255Tyr | |
| NM_001378233.1:c.764G>A | NP_001365162.1:p.Cys255Tyr | |
| NM_001378234.1:c.764G>A | NP_001365163.1:p.Cys255Tyr | |
| NM_001378235.1:c.764G>A | NP_001365164.1:p.Cys255Tyr | |
| NM_001378237.1:c.764G>A | NP_001365166.1:p.Cys255Tyr | |
| NM_003361.4:c.764G>A MANE Select | NP_003352.2:p.Cys255Tyr | |
| NR_165456.1:n.989G>A |