HGVS | Genome Assembly |
---|---|
NC_000019.10:g.18786145C>G , CM000681.2:g.18786145C>G | GRCh38 |
NC_000019.9:g.18896955C>G , CM000681.1:g.18896955C>G | GRCh37 |
NC_000019.8:g.18757955C>G | NCBI36 |
NG_007070.1:g.10160G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000222271.7:c.1309G>C MANE Select | ENSP00000222271.2:p.Asp437His | |
ENST00000222271.6:c.1309G>C | ENSP00000222271.2:p.Asp437His | |
ENST00000425807.1:c.1150G>C | ENSP00000403792.1:p.Asp384His | |
ENST00000542601.6:c.1210G>C | ENSP00000439156.2:p.Asp404His | |
ENST00000612179.1:n.559G>C | ||
NM_000095.2:c.1309G>C | NP_000086.2:p.Asp437His | |
NM_000095.3:c.1309G>C MANE Select | NP_000086.2:p.Asp437His |