HGVS | Genome Assembly |
---|---|
NC_000019.10:g.4816927T>G , CM000681.2:g.4816927T>G | GRCh38 |
NC_000019.9:g.4816939T>G , CM000681.1:g.4816939T>G | GRCh37 |
NC_000019.8:g.4767939T>G | NCBI36 |
NG_031998.1:g.19816A>C , LRG_358:g.19816A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000248244.6:c.1451A>C MANE Select | ENSP00000248244.4:p.Asp484Ala | |
ENST00000248244.5:c.1451A>C | ENSP00000248244.4:p.Asp484Ala | |
ENST00000621756.1:c.1034A>C | ENSP00000479467.1:p.Asp345Ala | |
NM_182919.3:c.1451A>C , LRG_358t1:c.1451A>C | NP_891549.1:p.Asp484Ala | |
NM_001385678.1:c.1409A>C | NP_001372607.1:p.Asp470Ala | |
NM_001385679.1:c.1316A>C | NP_001372608.1:p.Asp439Ala | |
NM_001385680.1:c.809A>C | NP_001372609.1:p.Asp270Ala | |
NM_182919.4:c.1451A>C MANE Select | NP_891549.1:p.Asp484Ala |