Linked Data
dbSNP Id:
rs3132297
gnomAD v2:
9-137301866-A-G
gnomAD v3:
9-134410020-A-G
gnomAD v4:
9-134410020-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134410020A>G , CM000671.2:g.134410020A>G | GRCh38 |
| NC_000009.11:g.137301866A>G , CM000671.1:g.137301866A>G | GRCh37 |
| NC_000009.10:g.136441687A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000481739.2:c.610+901A>G MANE Select | ENSP00000419692.1:n.610+901A>G | |
| ENST00000672570.1:c.529+901A>G | ENSP00000500402.1:n.529+901A>G | |
| ENST00000356384.4:n.1020+901A>G | ||
| ENST00000481739.1:c.610+901A>G | ENSP00000419692.1:n.610+901A>G | |
| NM_001291920.1:c.529+901A>G | NP_001278849.1:n.529+901A>G | |
| NM_001291921.1:c.319+901A>G | NP_001278850.1:n.319+901A>G | |
| NM_002957.5:c.610+901A>G | NP_002948.1:n.610+901A>G | |
| NM_002957.6:c.610+901A>G MANE Select | NP_002948.1:n.610+901A>G | |
| NM_001291921.2:c.319+901A>G | NP_001278850.1:n.319+901A>G | |
| NM_001291920.2:c.529+901A>G | NP_001278849.1:n.529+901A>G |