Linked Data
dbSNP Id:
rs368038677
ExAC:
2:85780374 T / C
gnomAD v2:
2-85780374-T-C
gnomAD v3:
2-85553251-T-C
gnomAD v4:
2-85553251-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85553251T>C , CM000664.2:g.85553251T>C | GRCh38 |
| NC_000002.11:g.85780374T>C , CM000664.1:g.85780374T>C | GRCh37 |
| NC_000002.10:g.85633885T>C | NCBI36 |
| NG_011811.2:g.13284A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000473665.2:n.5180A>G | ||
| ENST00000482662.2:n.3587A>G | ||
| ENST00000685865.1:n.1539A>G | ||
| ENST00000687250.1:n.1239A>G | ||
| ENST00000687995.1:n.1488A>G | ||
| ENST00000688205.1:c.*729A>G | ENSP00000509673.1:n.*729A>G | |
| ENST00000688788.1:n.1375A>G | ||
| ENST00000689276.1:c.1067A>G | ENSP00000510012.1:p.Tyr356Cys | |
| ENST00000689576.1:c.1136A>G | ENSP00000508712.1:p.Tyr379Cys | |
| ENST00000690108.1:c.*792A>G | ENSP00000510617.1:n.*792A>G | |
| ENST00000690468.1:c.857A>G | ENSP00000509078.1:p.Tyr286Cys | |
| ENST00000690595.1:c.461A>G | ENSP00000508979.1:p.Tyr154Cys | |
| ENST00000691348.1:c.965A>G | ENSP00000509369.1:p.Tyr322Cys | |
| ENST00000691410.1:c.*713A>G | ENSP00000508479.1:n.*713A>G | |
| ENST00000693287.1:c.452A>G | ENSP00000510264.1:p.Tyr151Cys | |
| ENST00000693681.1:c.449A>G | ENSP00000510789.1:p.Tyr150Cys | |
| ENST00000233838.9:c.1136A>G MANE Select | ENSP00000233838.3:p.Tyr379Cys | |
| ENST00000233838.8:c.1136A>G | ENSP00000233838.3:p.Tyr379Cys | |
| ENST00000430215.7:c.965A>G | ENSP00000408045.3:p.Tyr322Cys | |
| ENST00000465637.5:n.179-5247A>G | ||
| ENST00000473665.1:n.629A>G | ||
| ENST00000482662.1:n.553A>G | ||
| NM_000821.5:c.1136A>G | NP_000812.2:p.Tyr379Cys | |
| NM_000821.6:c.1136A>G | NP_000812.2:p.Tyr379Cys | |
| NM_001142269.2:c.965A>G | NP_001135741.1:p.Tyr322Cys | |
| NM_001142269.3:c.965A>G | NP_001135741.1:p.Tyr322Cys | |
| XM_005264259.3:c.1136A>G | XP_005264316.1:p.Tyr379Cys | |
| XM_011532764.1:c.314A>G | XP_011531066.1:p.Tyr105Cys | |
| XM_011532765.1:c.314A>G | XP_011531067.1:p.Tyr105Cys | |
| XR_939677.1:n.1201A>G | ||
| XM_005264259.5:c.1136A>G | XP_005264316.1:p.Tyr379Cys | |
| XM_011532764.3:c.314A>G | XP_011531066.1:p.Tyr105Cys | |
| XM_011532765.3:c.314A>G | XP_011531067.1:p.Tyr105Cys | |
| XM_017003803.2:c.965A>G | XP_016859292.1:p.Tyr322Cys | |
| XR_001738703.2:n.1201A>G | ||
| NM_000821.7:c.1136A>G MANE Select | NP_000812.2:p.Tyr379Cys | |
| NM_001142269.4:c.965A>G | NP_001135741.1:p.Tyr322Cys |