HGVS | Genome Assembly |
---|---|
NC_000021.9:g.31667268G>C , CM000683.2:g.31667268G>C | GRCh38 |
NC_000021.8:g.33039581G>C , CM000683.1:g.33039581G>C | GRCh37 |
NC_000021.7:g.31961452G>C | NCBI36 |
NG_008689.1:g.12647G>C , LRG_652:g.12647G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270142.11:c.250G>C MANE Select | ENSP00000270142.7:p.Asp84His | |
ENST00000270142.10:c.250G>C | ENSP00000270142.6:p.Asp84His | |
ENST00000389995.4:c.193G>C | ENSP00000374645.4:p.Asp65His | |
ENST00000470944.1:n.1178G>C | ||
ENST00000476106.5:n.513G>C | ||
NM_000454.4:c.250G>C , LRG_652t1:c.250G>C | NP_000445.1:p.Asp84His | |
NM_000454.5:c.250G>C MANE Select | NP_000445.1:p.Asp84His |