Linked Data
dbSNP Id:
rs6476606
gnomAD v2:
9-37005561-A-G
gnomAD v3:
9-37005564-A-G
gnomAD v4:
9-37005564-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37005564A>G , CM000671.2:g.37005564A>G | GRCh38 |
| NC_000009.11:g.37005561A>G , CM000671.1:g.37005561A>G | GRCh37 |
| NC_000009.10:g.36995561A>G | NCBI36 |
| NG_033894.1:g.33916T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000358127.9:c.475+909T>C MANE Select | ENSP00000350844.4:n.475+909T>C | |
| ENST00000377852.7:c.475+909T>C | ENSP00000367083.2:n.475+909T>C | |
| ENST00000520154.6:c.475+909T>C | ENSP00000429291.1:n.475+909T>C | |
| ENST00000523241.6:c.475+909T>C | ENSP00000429637.1:n.475+909T>C | |
| ENST00000651199.1:n.210-2788T>C | ||
| ENST00000651550.1:c.151+909T>C | ENSP00000498443.1:n.151+909T>C | |
| ENST00000358127.8:c.475+909T>C | ENSP00000350844.4:n.475+909T>C | |
| ENST00000377840.6:c.475+909T>C | ENSP00000367071.2:n.475+909T>C | |
| ENST00000377847.6:c.475+909T>C | ENSP00000367078.2:n.475+909T>C | |
| ENST00000377852.6:c.475+909T>C | ENSP00000367083.2:n.475+909T>C | |
| ENST00000377853.6:c.475+909T>C | ENSP00000367084.2:n.475+909T>C | |
| ENST00000414447.5:c.475+909T>C | ENSP00000412188.1:n.475+909T>C | |
| ENST00000446742.5:c.277+909T>C | ENSP00000404687.1:n.277+909T>C | |
| ENST00000520154.5:c.475+909T>C | ENSP00000429291.1:n.475+909T>C | |
| ENST00000520281.5:c.475+909T>C | ENSP00000430773.1:n.475+909T>C | |
| ENST00000522003.5:c.151+909T>C | ENSP00000429359.1:n.151+909T>C | |
| ENST00000523145.5:c.151+909T>C | ENSP00000429197.1:n.151+909T>C | |
| ENST00000523241.5:c.475+909T>C | ENSP00000429637.1:n.475+909T>C | |
| ENST00000523493.5:c.475+909T>C | ENSP00000431038.1:n.475+909T>C | |
| NM_001280547.1:c.475+909T>C | NP_001267476.1:n.475+909T>C | |
| NM_001280548.1:c.475+909T>C | NP_001267477.1:n.475+909T>C | |
| NM_001280549.1:c.475+909T>C | NP_001267478.1:n.475+909T>C | |
| NM_001280550.1:c.475+909T>C | NP_001267479.1:n.475+909T>C | |
| NM_001280551.1:c.151+909T>C | NP_001267480.1:n.151+909T>C | |
| NM_001280552.1:c.475+909T>C | NP_001267481.1:n.475+909T>C | |
| NM_001280553.1:c.475+909T>C | NP_001267482.1:n.475+909T>C | |
| NM_001280554.1:c.475+909T>C | NP_001267483.1:n.475+909T>C | |
| NM_001280555.1:c.277+909T>C | NP_001267484.1:n.277+909T>C | |
| NM_001280556.1:c.151+909T>C | NP_001267485.1:n.151+909T>C | |
| NM_016734.2:c.475+909T>C | NP_057953.1:n.475+909T>C | |
| NR_103999.1:n.923+909T>C | ||
| NR_104000.1:n.923+909T>C | ||
| XM_005251481.3:c.472+909T>C | XP_005251538.1:n.472+909T>C | |
| XM_011517896.1:c.475+909T>C | XP_011516198.1:n.475+909T>C | |
| XM_011517897.1:c.472+909T>C | XP_011516199.1:n.472+909T>C | |
| XR_929591.1:n.1767A>G | ||
| XR_929592.1:n.221A>G | ||
| XR_001746663.1:n.149-1886A>G | ||
| XR_001746664.1:n.149-205A>G | ||
| XR_929591.2:n.1772A>G | ||
| NM_016734.3:c.475+909T>C MANE Select | NP_057953.1:n.475+909T>C | |
| NM_001280547.2:c.475+909T>C | NP_001267476.1:n.475+909T>C | |
| NM_001280548.2:c.475+909T>C | NP_001267477.1:n.475+909T>C | |
| NM_001280549.2:c.475+909T>C | NP_001267478.1:n.475+909T>C | |
| NM_001280550.2:c.475+909T>C | NP_001267479.1:n.475+909T>C | |
| NM_001280551.2:c.151+909T>C | NP_001267480.1:n.151+909T>C | |
| NM_001280552.2:c.475+909T>C | NP_001267481.1:n.475+909T>C | |
| NM_001280553.2:c.475+909T>C | NP_001267482.1:n.475+909T>C | |
| NM_001280554.2:c.475+909T>C | NP_001267483.1:n.475+909T>C | |
| NM_001280555.2:c.277+909T>C | NP_001267484.1:n.277+909T>C | |
| NM_001280556.2:c.151+909T>C | NP_001267485.1:n.151+909T>C | |
| NR_103999.2:n.712+909T>C | ||
| NR_104000.2:n.712+909T>C |