Linked Data
dbSNP Id:
rs746365243
ExAC:
19:10742021 A / G
gnomAD v2:
19-10742021-A-G
gnomAD v4:
19-10631345-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10631345A>G , CM000681.2:g.10631345A>G | GRCh38 |
| NC_000019.9:g.10742021A>G , CM000681.1:g.10742021A>G | GRCh37 |
| NC_000019.8:g.10603021A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335757.10:c.401A>G MANE Select | ENSP00000336888.4:p.Tyr134Cys | |
| ENST00000335757.9:c.401A>G | ENSP00000336888.4:p.Tyr134Cys | |
| ENST00000407327.8:c.395A>G | ENSP00000385135.3:p.Tyr132Cys | |
| ENST00000586078.5:c.401A>G | ENSP00000466664.1:p.Tyr134Cys | |
| ENST00000588409.1:c.245+3341A>G | ENSP00000468070.1:n.245+3341A>G | |
| ENST00000588465.5:n.310A>G | ||
| ENST00000588688.5:c.242A>G | ENSP00000467552.1:p.Tyr81Cys | |
| ENST00000590382.5:c.236A>G | ENSP00000468691.1:p.Tyr79Cys | |
| ENST00000590857.5:c.-149A>G | ENSP00000465547.1:n.-149A>G | |
| ENST00000592293.5:c.*198A>G | ENSP00000466612.1:n.*198A>G | |
| NM_001145056.1:c.395A>G | NP_001138528.1:p.Tyr132Cys | |
| NM_020428.3:c.401A>G | NP_065161.3:p.Tyr134Cys | |
| XM_005259997.1:c.401A>G | XP_005260054.1:p.Tyr134Cys | |
| XM_005259999.1:c.395A>G | XP_005260056.1:p.Tyr132Cys | |
| NM_001363611.1:c.401A>G | NP_001350540.1:p.Tyr134Cys | |
| XM_005259999.2:c.395A>G | XP_005260056.1:p.Tyr132Cys | |
| NM_020428.4:c.401A>G MANE Select | NP_065161.3:p.Tyr134Cys | |
| NM_001145056.2:c.395A>G | NP_001138528.1:p.Tyr132Cys | |
| NM_001363611.2:c.401A>G | NP_001350540.1:p.Tyr134Cys |