HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154965999G>T , CM000685.2:g.154965999G>T | GRCh38 |
NC_000023.10:g.154194274G>T , CM000685.1:g.154194274G>T | GRCh37 |
NC_000023.9:g.153847468G>T | NCBI36 |
NG_011403.1:g.61725C>A | |
NG_011403.2:g.61725C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360256.9:c.1414C>A MANE Select | ENSP00000353393.4:p.Leu472Ile | |
ENST00000647125.1:c.*1290C>A | ENSP00000496062.1:n.*1290C>A | |
ENST00000360256.8:c.1414C>A | ENSP00000353393.4:p.Leu472Ile | |
ENST00000483822.2:n.234C>A | ||
NM_000132.3:c.1414C>A | NP_000123.1:p.Leu472Ile | |
XM_011531126.1:c.1309C>A | XP_011529428.1:p.Leu437Ile | |
NM_000132.4:c.1414C>A MANE Select | NP_000123.1:p.Leu472Ile |