dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.61371988G>T , CM000682.2:g.61371988G>T | GRCh38 |
| NC_000020.10:g.59947044G>T , CM000682.1:g.59947044G>T | GRCh37 |
| NC_000020.9:g.59380439G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614565.5:c.169+117051G>T MANE Select | ENSP00000484928.1:n.169+117051G>T | |
| ENST00000614565.4:c.169+117051G>T | ENSP00000484928.1:n.169+117051G>T | |
| NM_001794.4:c.169+117051G>T | NP_001785.2:n.169+117051G>T | |
| NM_001794.5:c.169+117051G>T MANE Select | NP_001785.2:n.169+117051G>T |