HGVS | Genome Assembly |
---|---|
NC_000019.10:g.17816879T>G , CM000681.2:g.17816879T>G | GRCh38 |
NC_000019.9:g.17927688T>G , CM000681.1:g.17927688T>G | GRCh37 |
NC_000019.8:g.17788688T>G | NCBI36 |
NG_012092.1:g.9633A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000317306.8:c.371A>C MANE Select | ENSP00000321724.6:p.Asp124Ala | |
ENST00000317306.7:c.371A>C | ENSP00000321724.6:p.Asp124Ala | |
ENST00000379695.5:c.466A>C | ENSP00000369017.4:p.Thr156Pro | |
ENST00000598577.1:c.392A>C | ||
NM_001265587.1:c.466A>C | NP_001252516.1:p.Thr156Pro | |
NM_005543.3:c.371A>C | NP_005534.2:p.Asp124Ala | |
NM_001265587.2:c.466A>C | NP_001252516.1:p.Thr156Pro | |
NM_005543.4:c.371A>C MANE Select | NP_005534.2:p.Asp124Ala |