Linked Data
dbSNP Id:
rs533478554
gnomAD v2:
12-56482030-A-G
gnomAD v3:
12-56088246-A-G
gnomAD v4:
12-56088246-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56088246A>G , CM000674.2:g.56088246A>G | GRCh38 |
| NC_000012.11:g.56482030A>G , CM000674.1:g.56482030A>G | GRCh37 |
| NC_000012.10:g.54768297A>G | NCBI36 |
| NG_011529.1:g.13139A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682431.1:n.1033+84A>G | ||
| ENST00000683018.1:c.697+84A>G | ENSP00000506822.1:n.697+84A>G | |
| ENST00000683059.1:c.697+84A>G | ENSP00000507402.1:n.697+84A>G | |
| ENST00000683164.1:c.697+84A>G | ENSP00000508051.1:n.697+84A>G | |
| ENST00000683653.1:n.828+84A>G | ||
| ENST00000684500.1:n.1003+84A>G | ||
| ENST00000267101.8:c.874+84A>G MANE Select | ENSP00000267101.4:n.874+84A>G | |
| ENST00000267101.7:c.874+84A>G | ENSP00000267101.3:n.874+84A>G | |
| ENST00000415288.6:c.697+84A>G | ENSP00000408340.2:n.697+84A>G | |
| ENST00000546748.1:n.339+84A>G | ||
| ENST00000550869.5:c.25-6235A>G | ENSP00000448671.1:n.25-6235A>G | |
| ENST00000551085.5:c.874+84A>G | ENSP00000448483.1:n.874+84A>G | |
| ENST00000551242.5:c.874+84A>G | ENSP00000447510.1:n.874+84A>G | |
| NM_001982.3:c.874+84A>G | NP_001973.2:n.874+84A>G | |
| NM_001982.4:c.874+84A>G MANE Select | NP_001973.2:n.874+84A>G |