dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.146425696T>A , CM000669.2:g.146425696T>A | GRCh38 |
| NC_000007.13:g.146122788T>A , CM000669.1:g.146122788T>A | GRCh37 |
| NC_000007.12:g.145753721T>A | NCBI36 |
| NG_007092.2:g.314336T>A | |
| NG_007092.3:g.314696T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.97+308723T>A MANE Select | ENSP00000354778.3:n.97+308723T>A | |
| ENST00000637150.1:n.26+308723T>A | ||
| ENST00000361727.7:c.97+308723T>A | ENSP00000354778.3:n.97+308723T>A | |
| ENST00000625365.2:c.97+308723T>A | ENSP00000485955.1:n.97+308723T>A | |
| NM_014141.5:c.97+308723T>A | NP_054860.1:n.97+308723T>A | |
| XM_017011950.2:c.97+308723T>A | XP_016867439.1:n.97+308723T>A | |
| NM_014141.6:c.97+308723T>A MANE Select | NP_054860.1:n.97+308723T>A |