Linked Data
dbSNP Id:
rs779820493
ExAC:
19:6686148 T / C
gnomAD v2:
19-6686148-T-C
gnomAD v3:
19-6686137-T-C
gnomAD v4:
19-6686137-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6686137T>C , CM000681.2:g.6686137T>C | GRCh38 |
| NC_000019.9:g.6686148T>C , CM000681.1:g.6686148T>C | GRCh37 |
| NC_000019.8:g.6637148T>C | NCBI36 |
| NG_009557.1:g.39515A>G , LRG_27:g.39515A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.2145A>G | ||
| ENST00000695652.1:c.3674A>G | ENSP00000512083.1:p.Tyr1225Cys | |
| ENST00000695653.1:c.1706A>G | ENSP00000512084.1:p.Tyr569Cys | |
| ENST00000695654.1:c.2822A>G | ENSP00000512085.1:p.Tyr941Cys | |
| ENST00000695655.1:c.2738A>G | ENSP00000512086.1:n.2738A>G | |
| ENST00000695692.1:n.3161A>G | ||
| ENST00000245907.11:c.3797A>G MANE Select | ENSP00000245907.4:p.Tyr1266Cys | |
| ENST00000245907.10:c.3797A>G | ENSP00000245907.4:p.Tyr1266Cys | |
| ENST00000596238.1:n.240A>G | ||
| ENST00000601008.1:c.241+609A>G | ENSP00000471384.1:n.241+609A>G | |
| NM_000064.3:c.3797A>G | NP_000055.2:p.Tyr1266Cys | |
| NM_000064.4:c.3797A>G MANE Select | NP_000055.2:p.Tyr1266Cys |