HGVS | Genome Assembly |
---|---|
NC_000019.10:g.4817041A>T , CM000681.2:g.4817041A>T | GRCh38 |
NC_000019.9:g.4817053A>T , CM000681.1:g.4817053A>T | GRCh37 |
NC_000019.8:g.4768053A>T | NCBI36 |
NG_031998.1:g.19702T>A , LRG_358:g.19702T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000248244.6:c.1337T>A MANE Select | ENSP00000248244.4:p.Ile446Lys | |
ENST00000248244.5:c.1337T>A | ENSP00000248244.4:p.Ile446Lys | |
ENST00000621756.1:c.920T>A | ENSP00000479467.1:p.Ile307Lys | |
NM_182919.3:c.1337T>A , LRG_358t1:c.1337T>A | NP_891549.1:p.Ile446Lys | |
NM_001385678.1:c.1295T>A | NP_001372607.1:p.Ile432Lys | |
NM_001385679.1:c.1202T>A | NP_001372608.1:p.Ile401Lys | |
NM_001385680.1:c.695T>A | NP_001372609.1:p.Ile232Lys | |
NM_182919.4:c.1337T>A MANE Select | NP_891549.1:p.Ile446Lys |