Linked Data
dbSNP Id:
rs772163270
ExAC:
19:10741967 G / A
gnomAD v2:
19-10741967-G-A
gnomAD v4:
19-10631291-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10631291G>A , CM000681.2:g.10631291G>A | GRCh38 |
| NC_000019.9:g.10741967G>A , CM000681.1:g.10741967G>A | GRCh37 |
| NC_000019.8:g.10602967G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335757.10:c.347G>A MANE Select | ENSP00000336888.4:p.Cys116Tyr | |
| ENST00000335757.9:c.347G>A | ENSP00000336888.4:p.Cys116Tyr | |
| ENST00000407327.8:c.341G>A | ENSP00000385135.3:p.Cys114Tyr | |
| ENST00000586078.5:c.347G>A | ENSP00000466664.1:p.Cys116Tyr | |
| ENST00000588409.1:c.245+3287G>A | ENSP00000468070.1:n.245+3287G>A | |
| ENST00000588465.5:n.256G>A | ||
| ENST00000588688.5:c.188G>A | ENSP00000467552.1:p.Cys63Tyr | |
| ENST00000590382.5:c.182G>A | ENSP00000468691.1:p.Cys61Tyr | |
| ENST00000590857.5:c.-203G>A | ENSP00000465547.1:n.-203G>A | |
| ENST00000592293.5:c.*144G>A | ENSP00000466612.1:n.*144G>A | |
| NM_001145056.1:c.341G>A | NP_001138528.1:p.Cys114Tyr | |
| NM_020428.3:c.347G>A | NP_065161.3:p.Cys116Tyr | |
| XM_005259997.1:c.347G>A | XP_005260054.1:p.Cys116Tyr | |
| XM_005259999.1:c.341G>A | XP_005260056.1:p.Cys114Tyr | |
| NM_001363611.1:c.347G>A | NP_001350540.1:p.Cys116Tyr | |
| XM_005259999.2:c.341G>A | XP_005260056.1:p.Cys114Tyr | |
| NM_020428.4:c.347G>A MANE Select | NP_065161.3:p.Cys116Tyr | |
| NM_001145056.2:c.341G>A | NP_001138528.1:p.Cys114Tyr | |
| NM_001363611.2:c.347G>A | NP_001350540.1:p.Cys116Tyr |