HGVS | Genome Assembly |
---|---|
NC_000013.11:g.110169680T>G , CM000675.2:g.110169680T>G | GRCh38 |
NC_000013.10:g.110822027T>G , CM000675.1:g.110822027T>G | GRCh37 |
NC_000013.9:g.109620028T>G | NCBI36 |
NG_011544.2:g.142470A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375820.10:c.3825A>C MANE Select | ENSP00000364979.4:p.Gly1275= | |
ENST00000375820.8:c.3825A>C | ENSP00000364979.4:p.Gly1275= | |
NM_001845.5:c.3825A>C | NP_001836.3:p.Gly1275= | |
XM_011521048.1:c.3633A>C | XP_011519350.1:p.Gly1211= | |
XM_011521048.2:c.3633A>C | XP_011519350.1:p.Gly1211= | |
NM_001845.6:c.3825A>C MANE Select | NP_001836.3:p.Gly1275= |