HGVS | Genome Assembly |
---|---|
NC_000004.12:g.87612405A>G , CM000666.2:g.87612405A>G | GRCh38 |
NC_000004.11:g.88533557A>G , CM000666.1:g.88533557A>G | GRCh37 |
NC_000004.10:g.88752581A>G | NCBI36 |
NG_011595.1:g.8877A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651931.1:c.219A>G MANE Select | ENSP00000498766.1:p.Gln73= | |
ENST00000282478.7:c.219A>G | ENSP00000282478.7:p.Gln73= | |
ENST00000399271.5:c.219A>G | ENSP00000382213.1:p.Gln73= | |
NM_014208.3:c.219A>G MANE Select | NP_055023.2:p.Gln73= |