HGVS | Genome Assembly |
---|---|
NC_000013.11:g.110169677T>G , CM000675.2:g.110169677T>G | GRCh38 |
NC_000013.10:g.110822024T>G , CM000675.1:g.110822024T>G | GRCh37 |
NC_000013.9:g.109620025T>G | NCBI36 |
NG_011544.2:g.142473A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375820.10:c.3828A>C MANE Select | ENSP00000364979.4:p.Ala1276= | |
ENST00000375820.8:c.3828A>C | ENSP00000364979.4:p.Ala1276= | |
NM_001845.5:c.3828A>C | NP_001836.3:p.Ala1276= | |
XM_011521048.1:c.3636A>C | XP_011519350.1:p.Ala1212= | |
XM_011521048.2:c.3636A>C | XP_011519350.1:p.Ala1212= | |
NM_001845.6:c.3828A>C MANE Select | NP_001836.3:p.Ala1276= |