Linked Data
dbSNP Id:
rs5573
ExAC:
7:24325009 G / T
gnomAD v2:
7-24325009-G-T
gnomAD v4:
7-24285390-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.24285390G>T , CM000669.2:g.24285390G>T | GRCh38 |
| NC_000007.13:g.24325009G>T , CM000669.1:g.24325009G>T | GRCh37 |
| NC_000007.12:g.24291534G>T | NCBI36 |
| NG_016148.1:g.6203G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000242152.7:c.150G>T MANE Select | ENSP00000242152.2:p.Ser50= | |
| ENST00000242152.6:c.150G>T | ENSP00000242152.2:p.Ser50= | |
| ENST00000405982.1:c.150G>T | ENSP00000385282.1:p.Ser50= | |
| ENST00000407573.5:c.150G>T | ENSP00000384364.1:p.Ser50= | |
| NM_000905.3:c.150G>T | NP_000896.1:p.Ser50= | |
| XM_017012910.1:c.42-29691C>A | XP_016868399.1:n.42-29691C>A | |
| XM_017012911.1:c.42-29691C>A | XP_016868400.1:n.42-29691C>A | |
| XR_001745121.1:n.473+33967C>A | ||
| XR_001745122.1:n.345-88361C>A | ||
| XR_001745123.1:n.473+33967C>A | ||
| XR_001745124.1:n.473+33967C>A | ||
| XR_001745125.1:n.473+33967C>A | ||
| XR_001745126.1:n.473+33967C>A | ||
| XR_001745127.1:n.345-29691C>A | ||
| XR_001745129.1:n.473+33967C>A | ||
| XR_001745130.1:n.473+33967C>A | ||
| XR_001745131.1:n.473+33967C>A | ||
| XR_001745132.1:n.473+33967C>A | ||
| NM_000905.4:c.150G>T MANE Select | NP_000896.1:p.Ser50= |