Linked Data
dbSNP Id:
rs759092624
ExAC:
4:155526005 T / C
gnomAD v2:
4-155526005-T-C
gnomAD v4:
4-154604853-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154604853T>C , CM000666.2:g.154604853T>C | GRCh38 |
| NC_000004.11:g.155526005T>C , CM000666.1:g.155526005T>C | GRCh37 |
| NC_000004.10:g.155745455T>C | NCBI36 |
| NG_008834.1:g.12898A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336098.8:c.1343A>G MANE Select | ENSP00000336829.3:p.Tyr448Cys | |
| ENST00000336098.7:c.1343A>G | ENSP00000336829.3:p.Tyr448Cys | |
| ENST00000404648.7:c.1299+44A>G | ENSP00000384860.3:n.1299+44A>G | |
| ENST00000405164.5:c.1323+44A>G | ENSP00000384101.1:n.1323+44A>G | |
| ENST00000407946.5:c.1367A>G | ENSP00000384552.1:p.Tyr456Cys | |
| ENST00000465913.1:n.891A>G | ||
| ENST00000492082.5:n.1841+44A>G | ||
| NM_000509.4:c.1299+44A>G | NP_000500.2:n.1299+44A>G | |
| NM_000509.5:c.1299+44A>G | NP_000500.2:n.1299+44A>G | |
| NM_021870.2:c.1343A>G | NP_068656.2:p.Tyr448Cys | |
| NM_021870.3:c.1343A>G MANE Select | NP_068656.2:p.Tyr448Cys | |
| NM_000509.6:c.1299+44A>G | NP_000500.2:n.1299+44A>G |