HGVS | Genome Assembly |
---|---|
NC_000019.10:g.4816577C>A , CM000681.2:g.4816577C>A | GRCh38 |
NC_000019.9:g.4816589C>A , CM000681.1:g.4816589C>A | GRCh37 |
NC_000019.8:g.4767589C>A | NCBI36 |
NG_031998.1:g.20166G>T , LRG_358:g.20166G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000248244.6:c.1801G>T MANE Select | ENSP00000248244.4:p.Ala601Ser | |
ENST00000248244.5:c.1801G>T | ENSP00000248244.4:p.Ala601Ser | |
ENST00000621756.1:c.1384G>T | ENSP00000479467.1:p.Ala462Ser | |
NM_182919.3:c.1801G>T , LRG_358t1:c.1801G>T | NP_891549.1:p.Ala601Ser | |
NM_001385678.1:c.1759G>T | NP_001372607.1:p.Ala587Ser | |
NM_001385679.1:c.1666G>T | NP_001372608.1:p.Ala556Ser | |
NM_001385680.1:c.1159G>T | NP_001372609.1:p.Ala387Ser | |
NM_182919.4:c.1801G>T MANE Select | NP_891549.1:p.Ala601Ser |