HGVS | Genome Assembly |
---|---|
NC_000019.10:g.15180219C>G , CM000681.2:g.15180219C>G | GRCh38 |
NC_000019.9:g.15291030C>G , CM000681.1:g.15291030C>G | GRCh37 |
NC_000019.8:g.15152030C>G | NCBI36 |
NG_009819.1:g.25763G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000263388.7:c.3180G>C MANE Select | ENSP00000263388.1:p.Gln1060His | |
ENST00000263388.6:c.3180G>C | ENSP00000263388.1:p.Gln1060His | |
ENST00000601011.1:c.3021G>C | ENSP00000473138.1:p.Gln1007His | |
NM_000435.2:c.3180G>C | NP_000426.2:p.Gln1060His | |
XM_005259924.3:c.3024G>C | XP_005259981.1:p.Gln1008His | |
XM_005259924.4:c.3024G>C | XP_005259981.1:p.Gln1008His | |
NM_000435.3:c.3180G>C MANE Select | NP_000426.2:p.Gln1060His |