Linked Data
dbSNP Id:
rs782042119
ExAC:
1:206224631 G / A
gnomAD v2:
1-206224631-G-A
gnomAD v4:
1-206116700-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.206116700C>T , CM000663.2:g.206116700C>T | GRCh38 |
| NC_000001.10:g.206224631G>A , CM000663.1:g.206224631G>A | GRCh37 |
| NC_000001.9:g.204391254G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367126.5:c.191G>A MANE Select | ENSP00000356094.4:p.Arg64His | |
| ENST00000367126.4:c.191G>A | ENSP00000356094.4:p.Arg64His | |
| ENST00000612906.1:n.36+964G>A | ||
| NM_000707.3:c.191G>A | NP_000698.1:p.Arg64His | |
| NM_000707.4:c.191G>A | NP_000698.1:p.Arg64His | |
| NM_000707.5:c.191G>A MANE Select | NP_000698.1:p.Arg64His |