HGVS | Genome Assembly |
---|---|
NC_000010.11:g.122506856G>C , CM000672.2:g.122506856G>C | GRCh38 |
NC_000010.10:g.124266372G>C , CM000672.1:g.124266372G>C | GRCh37 |
NC_000010.9:g.124256362G>C | NCBI36 |
NG_011554.1:g.50332G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368984.8:c.943G>C MANE Select | ENSP00000357980.3:p.Asp315His | |
ENST00000648167.1:c.625G>C | ENSP00000498033.1:p.Asp209His | |
ENST00000368984.7:c.943G>C | ENSP00000357980.3:p.Asp315His | |
ENST00000420892.1:c.166G>C | ENSP00000412676.1:p.Asp56His | |
NM_002775.4:c.943G>C | NP_002766.1:p.Asp315His | |
NM_002775.5:c.943G>C MANE Select | NP_002766.1:p.Asp315His |