HGVS | Genome Assembly |
---|---|
NC_000002.12:g.72891510A>C , CM000664.2:g.72891510A>C | GRCh38 |
NC_000002.11:g.73118639A>C , CM000664.1:g.73118639A>C | GRCh37 |
NC_000002.10:g.72972147A>C | NCBI36 |
NG_008234.1:g.9128A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000234454.6:c.759A>C MANE Select | ENSP00000234454.5:p.Gly253= | |
ENST00000234454.5:c.759A>C | ENSP00000234454.5:p.Gly253= | |
ENST00000498749.1:n.704A>C | ||
NM_003124.4:c.759A>C | NP_003115.1:p.Gly253= | |
NM_003124.5:c.759A>C MANE Select | NP_003115.1:p.Gly253= |