HGVS | Genome Assembly |
---|---|
NC_000019.10:g.4816736C>T , CM000681.2:g.4816736C>T | GRCh38 |
NC_000019.9:g.4816748C>T , CM000681.1:g.4816748C>T | GRCh37 |
NC_000019.8:g.4767748C>T | NCBI36 |
NG_031998.1:g.20007G>A , LRG_358:g.20007G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000248244.6:c.1642G>A MANE Select | ENSP00000248244.4:p.Ala548Thr | |
ENST00000248244.5:c.1642G>A | ENSP00000248244.4:p.Ala548Thr | |
ENST00000621756.1:c.1225G>A | ENSP00000479467.1:p.Ala409Thr | |
NM_182919.3:c.1642G>A , LRG_358t1:c.1642G>A | NP_891549.1:p.Ala548Thr | |
NM_001385678.1:c.1600G>A | NP_001372607.1:p.Ala534Thr | |
NM_001385679.1:c.1507G>A | NP_001372608.1:p.Ala503Thr | |
NM_001385680.1:c.1000G>A | NP_001372609.1:p.Ala334Thr | |
NM_182919.4:c.1642G>A MANE Select | NP_891549.1:p.Ala548Thr |