HGVS | Genome Assembly |
---|---|
NC_000004.12:g.88008247G>C , CM000666.2:g.88008247G>C | GRCh38 |
NC_000004.11:g.88929399G>C , CM000666.1:g.88929399G>C | GRCh37 |
NC_000004.10:g.89148423G>C | NCBI36 |
NG_008604.1:g.5580G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000237596.7:c.514G>C MANE Select | ENSP00000237596.2:p.Asp172His | |
ENST00000237596.6:c.514G>C | ENSP00000237596.2:p.Asp172His | |
ENST00000506727.1:n.16G>C | ||
NM_000297.3:c.514G>C | NP_000288.1:p.Asp172His | |
XM_011532028.1:c.514G>C | XP_011530330.1:p.Asp172His | |
XR_244632.2:n.609G>C | ||
NR_156488.1:n.601G>C | ||
XM_011532028.2:c.514G>C | XP_011530330.1:p.Asp172His | |
NM_000297.4:c.514G>C MANE Select | NP_000288.1:p.Asp172His | |
NR_156488.2:n.613G>C |