HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154903923A>T , CM000685.2:g.154903923A>T | GRCh38 |
NC_000023.10:g.154132198A>T , CM000685.1:g.154132198A>T | GRCh37 |
NC_000023.9:g.153785392A>T | NCBI36 |
NG_011403.1:g.123801T>A | |
NG_011403.2:g.123801T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360256.9:c.5981T>A MANE Select | ENSP00000353393.4:p.Leu1994Gln | |
ENST00000360256.8:c.5981T>A | ENSP00000353393.4:p.Leu1994Gln | |
NM_000132.3:c.5981T>A | NP_000123.1:p.Leu1994Gln | |
XM_011531126.1:c.5876T>A | XP_011529428.1:p.Leu1959Gln | |
NM_000132.4:c.5981T>A MANE Select | NP_000123.1:p.Leu1994Gln |