HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7581503G>T , CM000679.2:g.7581503G>T | GRCh38 |
NC_000017.10:g.7484821G>T , CM000679.1:g.7484821G>T | GRCh37 |
NC_000017.9:g.7425545G>T | NCBI36 |
NG_009204.1:g.2857G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000250092.11:c.1057G>T MANE Select | ENSP00000250092.6:p.Ala353Ser | |
ENST00000250092.10:c.1057G>T | ENSP00000250092.6:p.Ala353Ser | |
ENST00000380498.10:c.976G>T | ENSP00000369867.6:p.Ala326Ser | |
ENST00000584180.1:c.772G>T | ||
NM_001040059.1:c.976G>T | NP_001035148.1:p.Ala326Ser | |
NM_001251.2:c.1057G>T | NP_001242.2:p.Ala353Ser | |
NM_001251.3:c.1057G>T MANE Select | NP_001242.2:p.Ala353Ser | |
NM_001040059.2:c.976G>T | NP_001035148.1:p.Ala326Ser |