HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133352458C>G , CM000671.2:g.133352458C>G | GRCh38 |
NC_000009.10:g.135209134C>G | NCBI36 |
NG_008477.1:g.9049G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371974.8:c.739G>C MANE Select | ENSP00000361042.3:p.Asp247His | |
ENST00000371974.7:c.739G>C | ENSP00000361042.3:p.Asp247His | |
ENST00000437995.1:n.649G>C | ||
ENST00000495952.5:n.729G>C | ||
ENST00000615505.4:c.412G>C | ENSP00000482067.1:p.Asp138His | |
NM_001280787.1:c.412G>C | NP_001267716.1:p.Asp138His | |
NM_003172.3:c.739G>C | NP_003163.1:p.Asp247His | |
XM_011518942.1:c.412G>C | XP_011517244.1:p.Asp138His | |
NM_003172.4:c.739G>C MANE Select | NP_003163.1:p.Asp247His |