HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133352506C>G , CM000671.2:g.133352506C>G | GRCh38 |
NC_000009.10:g.135209182C>G | NCBI36 |
NG_008477.1:g.9001G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371974.8:c.691G>C MANE Select | ENSP00000361042.3:p.Asp231His | |
ENST00000371974.7:c.691G>C | ENSP00000361042.3:p.Asp231His | |
ENST00000437995.1:n.601G>C | ||
ENST00000495952.5:n.681G>C | ||
ENST00000615505.4:c.364G>C | ENSP00000482067.1:p.Asp122His | |
NM_001280787.1:c.364G>C | NP_001267716.1:p.Asp122His | |
NM_003172.3:c.691G>C | NP_003163.1:p.Asp231His | |
XM_011518942.1:c.364G>C | XP_011517244.1:p.Asp122His | |
NM_003172.4:c.691G>C MANE Select | NP_003163.1:p.Asp231His |