dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30689292A>G , CM000669.2:g.30689292A>G | GRCh38 |
| NC_000007.13:g.30728908A>G , CM000669.1:g.30728908A>G | GRCh37 |
| NC_000007.12:g.30695433A>G | NCBI36 |
| NG_029169.1:g.15812T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341843.8:c.-260-8T>C | ENSP00000344304.4:n.-260-8T>C | |
| ENST00000348438.8:c.91-8T>C | ENSP00000340943.4:n.91-8T>C | |
| ENST00000423776.1:c.91-8T>C | ENSP00000416620.1:n.91-8T>C | |
| ENST00000445981.5:c.91-8T>C | ENSP00000401241.1:n.91-8T>C | |
| ENST00000452278.5:c.91-8T>C | ENSP00000401930.1:n.91-8T>C | |
| ENST00000462882.1:n.187-8T>C | ||
| NM_001202475.1:c.91-8T>C | NP_001189404.1:n.91-8T>C | |
| NM_001202481.1:c.-260-8T>C | NP_001189410.1:n.-260-8T>C |