HGVS | Genome Assembly |
---|---|
NC_000005.10:g.175442902C>T , CM000667.2:g.175442902C>T | GRCh38 |
NC_000005.9:g.174869905C>T , CM000667.1:g.174869905C>T | GRCh37 |
NC_000005.8:g.174802511C>T | NCBI36 |
NG_011802.1:g.6259G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000393752.3:c.198G>A MANE Select | ENSP00000377353.1:p.Leu66= | |
ENST00000393752.2:c.198G>A | ENSP00000377353.1:p.Leu66= | |
NM_000794.3:c.198G>A | NP_000785.1:p.Leu66= | |
NM_000794.4:c.198G>A | NP_000785.1:p.Leu66= | |
NM_000794.5:c.198G>A MANE Select | NP_000785.1:p.Leu66= |