HGVS | Genome Assembly |
---|---|
NC_000019.10:g.35826557T>G , CM000681.2:g.35826557T>G | GRCh38 |
NC_000019.9:g.36317459T>G , CM000681.1:g.36317459T>G | GRCh37 |
NC_000019.8:g.41009299T>G | NCBI36 |
NG_013356.2:g.47731A>C , LRG_693:g.47731A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378910.10:c.3683A>C MANE Select | ENSP00000368190.4:p.Glu1228Ala | |
ENST00000353632.6:c.3563A>C | ENSP00000343634.5:p.Glu1188Ala | |
ENST00000378910.9:c.3683A>C | ENSP00000368190.4:p.Glu1228Ala | |
NM_004646.3:c.3683A>C , LRG_693t1:c.3683A>C | NP_004637.1:p.Glu1228Ala | |
NM_004646.4:c.3683A>C MANE Select | NP_004637.1:p.Glu1228Ala |