HGVS | Genome Assembly |
---|---|
NC_000002.12:g.61378402T>C , CM000664.2:g.61378402T>C | GRCh38 |
NC_000002.11:g.61605537T>C , CM000664.1:g.61605537T>C | GRCh37 |
NC_000002.10:g.61459041T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000398571.7:c.1037A>G MANE Select | ENSP00000381577.2:p.Asp346Gly | |
ENST00000398571.6:c.1037A>G | ENSP00000381577.2:p.Asp346Gly | |
ENST00000453133.1:c.563A>G | ||
NM_014709.3:c.1037A>G | NP_055524.3:p.Asp346Gly | |
NM_014709.4:c.1037A>G MANE Select | NP_055524.3:p.Asp346Gly |