dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134429009G>A , CM000671.2:g.134429009G>A | GRCh38 |
| NC_000009.11:g.137320855G>A , CM000671.1:g.137320855G>A | GRCh37 |
| NC_000009.10:g.136460676G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481739.2:c.911-99G>A MANE Select | ENSP00000419692.1:n.911-99G>A | |
| ENST00000672570.1:c.830-99G>A | ENSP00000500402.1:n.830-99G>A | |
| ENST00000356384.4:n.1321-99G>A | ||
| ENST00000481739.1:c.911-99G>A | ENSP00000419692.1:n.911-99G>A | |
| NM_001291920.1:c.830-99G>A | NP_001278849.1:n.830-99G>A | |
| NM_001291921.1:c.620-99G>A | NP_001278850.1:n.620-99G>A | |
| NM_002957.5:c.911-99G>A | NP_002948.1:n.911-99G>A | |
| NM_002957.6:c.911-99G>A MANE Select | NP_002948.1:n.911-99G>A | |
| NM_001291921.2:c.620-99G>A | NP_001278850.1:n.620-99G>A | |
| NM_001291920.2:c.830-99G>A | NP_001278849.1:n.830-99G>A |