HGVS | Genome Assembly |
---|---|
NC_000001.11:g.58576738T>G , CM000663.2:g.58576738T>G | GRCh38 |
NC_000001.10:g.59042410T>G , CM000663.1:g.59042410T>G | GRCh37 |
NC_000001.9:g.58814998T>G | NCBI36 |
NG_016237.1:g.5757A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371225.4:c.419A>C MANE Select | ENSP00000360269.2:p.Asp140Ala | |
ENST00000371225.3:c.419A>C | ENSP00000360269.2:p.Asp140Ala | |
NM_002353.2:c.419A>C | NP_002344.2:p.Asp140Ala | |
NM_002353.3:c.419A>C MANE Select | NP_002344.2:p.Asp140Ala |