Linked Data
dbSNP Id:
rs764702700
ExAC:
12:14659924 G / A
gnomAD v2:
12-14659924-G-A
gnomAD v3:
12-14506990-G-A
gnomAD v4:
12-14506990-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14506990G>A , CM000674.2:g.14506990G>A | GRCh38 |
| NC_000012.11:g.14659924G>A , CM000674.1:g.14659924G>A | GRCh37 |
| NC_000012.10:g.14551191G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000240617.10:c.1315C>T MANE Select | ENSP00000240617.5:p.Arg439Cys | |
| ENST00000240617.9:c.1315C>T | ENSP00000240617.5:p.Arg439Cys | |
| NM_024829.5:c.1315C>T | NP_079105.4:p.Arg439Cys | |
| NM_024829.6:c.1315C>T MANE Select | NP_079105.4:p.Arg439Cys |