HGVS | Genome Assembly |
---|---|
NC_000023.11:g.153770151G>A , CM000685.2:g.153770151G>A | GRCh38 |
NC_000023.10:g.153035606G>A , CM000685.1:g.153035606G>A | GRCh37 |
NC_000023.9:g.152688800G>A | NCBI36 |
NG_013255.1:g.10956G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361971.10:c.1689G>A MANE Select | ENSP00000355378.5:p.Ala563= | |
ENST00000361971.9:c.1689G>A | ENSP00000355378.5:p.Ala563= | |
ENST00000538966.5:c.1758G>A | ENSP00000442736.1:p.Ala586= | |
NM_001163257.1:c.1758G>A | NP_001156729.1:p.Ala586= | |
NM_005393.2:c.1689G>A | NP_005384.2:p.Ala563= | |
NM_005393.3:c.1689G>A MANE Select | NP_005384.2:p.Ala563= | |
NM_001163257.2:c.1758G>A | NP_001156729.1:p.Ala586= |