HGVS | Genome Assembly |
---|---|
NC_000011.10:g.22625065G>T , CM000673.2:g.22625065G>T | GRCh38 |
NC_000011.9:g.22646611G>T , CM000673.1:g.22646611G>T | GRCh37 |
NC_000011.8:g.22603187G>T | NCBI36 |
NG_007425.1:g.5777C>A , LRG_527:g.5777C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000327470.6:c.746C>A MANE Select | ENSP00000330875.3:p.Ala249Asp | |
ENST00000327470.4:c.746C>A | ENSP00000330875.3:p.Ala249Asp | |
NM_022725.3:c.746C>A , LRG_527t1:c.746C>A | NP_073562.1:p.Ala249Asp | |
NM_022725.4:c.746C>A MANE Select | NP_073562.1:p.Ala249Asp |