HGVS | Genome Assembly |
---|---|
NC_000019.10:g.4816243T>G , CM000681.2:g.4816243T>G | GRCh38 |
NC_000019.9:g.4816255T>G , CM000681.1:g.4816255T>G | GRCh37 |
NC_000019.8:g.4767255T>G | NCBI36 |
NG_031998.1:g.20500A>C , LRG_358:g.20500A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000248244.6:c.2135A>C MANE Select | ENSP00000248244.4:p.Glu712Ala | |
ENST00000248244.5:c.2135A>C | ENSP00000248244.4:p.Glu712Ala | |
ENST00000621756.1:c.1637A>C | ENSP00000479467.1:p.Glu546Ala | |
NM_182919.3:c.2135A>C , LRG_358t1:c.2135A>C | NP_891549.1:p.Glu712Ala | |
NM_001385678.1:c.2093A>C | NP_001372607.1:p.Glu698Ala | |
NM_001385679.1:c.2000A>C | NP_001372608.1:p.Glu667Ala | |
NM_001385680.1:c.1493A>C | NP_001372609.1:p.Glu498Ala | |
NM_182919.4:c.2135A>C MANE Select | NP_891549.1:p.Glu712Ala |