HGVS | Genome Assembly |
---|---|
NC_000023.11:g.155022546T>G , CM000685.2:g.155022546T>G | GRCh38 |
NC_000023.10:g.154250821T>G , CM000685.1:g.154250821T>G | GRCh37 |
NC_000023.9:g.153904015T>G | NCBI36 |
NG_011403.1:g.5178A>C | |
NG_011403.2:g.5178A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360256.9:c.7A>C MANE Select | ENSP00000353393.4:p.Ile3Leu | |
ENST00000647125.1:c.7A>C | ENSP00000496062.1:p.Ile3Leu | |
ENST00000360256.8:c.7A>C | ENSP00000353393.4:p.Ile3Leu | |
ENST00000423959.5:c.38+4234A>C | ENSP00000409446.1:n.38+4234A>C | |
ENST00000453950.1:c.39-50A>C | ENSP00000389153.1:n.39-50A>C | |
NM_000132.3:c.7A>C | NP_000123.1:p.Ile3Leu | |
XM_011531126.1:c.38+4234A>C | XP_011529428.1:n.38+4234A>C | |
NM_000132.4:c.7A>C MANE Select | NP_000123.1:p.Ile3Leu |