Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.186539566C>A , CM000665.2:g.186539566C>A | GRCh38 |
| NC_000003.11:g.186257355C>A , CM000665.1:g.186257355C>A | GRCh37 |
| NC_000003.10:g.187740049C>A | NCBI36 |
| NG_009829.1:g.9813G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307944.6:c.53G>T MANE Select | ENSP00000312099.5:p.Gly18Val | |
| ENST00000307944.5:c.53G>T | ENSP00000312099.5:p.Gly18Val | |
| ENST00000392499.6:c.53G>T | ENSP00000376287.2:p.Gly18Val | |
| ENST00000460288.1:n.955G>T | ||
| NM_017541.2:c.53G>T | NP_060011.1:p.Gly18Val | |
| NM_017541.3:c.53G>T | NP_060011.1:p.Gly18Val | |
| NM_017541.4:c.53G>T MANE Select | NP_060011.1:p.Gly18Val |