HGVS | Genome Assembly |
---|---|
NC_000019.10:g.35826605T>G , CM000681.2:g.35826605T>G | GRCh38 |
NC_000019.9:g.36317507T>G , CM000681.1:g.36317507T>G | GRCh37 |
NC_000019.8:g.41009347T>G | NCBI36 |
NG_013356.2:g.47683A>C , LRG_693:g.47683A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378910.10:c.3635A>C MANE Select | ENSP00000368190.4:p.Asp1212Ala | |
ENST00000353632.6:c.3515A>C | ENSP00000343634.5:p.Asp1172Ala | |
ENST00000378910.9:c.3635A>C | ENSP00000368190.4:p.Asp1212Ala | |
NM_004646.3:c.3635A>C , LRG_693t1:c.3635A>C | NP_004637.1:p.Asp1212Ala | |
NM_004646.4:c.3635A>C MANE Select | NP_004637.1:p.Asp1212Ala |