HGVS | Genome Assembly |
---|---|
NC_000010.11:g.133532177G>T , CM000672.2:g.133532177G>T | GRCh38 |
NC_000010.10:g.135345681G>T , CM000672.1:g.135345681G>T | GRCh37 |
NC_000010.9:g.135195671G>T | NCBI36 |
NG_008383.1:g.9815G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000252945.8:c.541G>T MANE Select | ENSP00000252945.3:p.Ala181Ser | |
ENST00000252945.7:c.541G>T | ENSP00000252945.3:p.Ala181Ser | |
ENST00000368520.1:n.602G>T | ||
ENST00000418356.1:c.130G>T | ENSP00000397299.1:p.Ala44Ser | |
ENST00000421586.5:c.280G>T | ENSP00000412754.1:p.Ala94Ser | |
ENST00000463117.6:c.541G>T | ENSP00000440689.1:p.Ala181Ser | |
ENST00000477500.5:n.448+443G>T | ||
ENST00000541080.5:c.226+443G>T | ||
NM_000773.3:c.541G>T | NP_000764.1:p.Ala181Ser | |
NM_000773.4:c.541G>T MANE Select | NP_000764.1:p.Ala181Ser |