HGVS | Genome Assembly |
---|---|
NC_000017.11:g.43755763T>G , CM000679.2:g.43755763T>G | GRCh38 |
NC_000017.10:g.41833131T>G , CM000679.1:g.41833131T>G | GRCh37 |
NC_000017.9:g.39188657T>G | NCBI36 |
NG_008078.2:g.8026A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301691.3:c.221A>C MANE Select | ENSP00000301691.1:p.Asp74Ala | |
ENST00000301691.2:c.221A>C | ENSP00000301691.1:p.Asp74Ala | |
NM_025237.2:c.221A>C | NP_079513.1:p.Asp74Ala | |
NM_025237.3:c.221A>C MANE Select | NP_079513.1:p.Asp74Ala |