Linked Data
dbSNP Id:
rs751112749
ExAC:
2:204736243 A / G
gnomAD v2:
2-204736243-A-G
gnomAD v4:
2-203871520-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.203871520A>G , CM000664.2:g.203871520A>G | GRCh38 |
| NC_000002.11:g.204736243A>G , CM000664.1:g.204736243A>G | GRCh37 |
| NC_000002.10:g.204444488A>G | NCBI36 |
| NG_011502.1:g.8735A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696049.1:c.507+93A>G | ENSP00000512353.1:n.507+93A>G | |
| ENST00000696479.1:c.639+33A>G | ENSP00000512655.1:n.639+33A>G | |
| ENST00000427473.3:n.491+587A>G | ||
| ENST00000648405.2:c.567+33A>G MANE Select | ENSP00000497102.1:n.567+33A>G | |
| ENST00000650075.1:n.591+33A>G | ||
| ENST00000295854.10:c.457+587A>G | ENSP00000295854.6:n.457+587A>G | |
| ENST00000302823.7:c.567+33A>G | ENSP00000303939.3:n.567+33A>G | |
| ENST00000427473.2:c.346+587A>G | ENSP00000409707.2:n.346+587A>G | |
| ENST00000472206.1:c.172+872A>G | ENSP00000417779.1:n.172+872A>G | |
| ENST00000487393.1:n.110-1188A>G | ||
| NM_001037631.2:c.457+587A>G | NP_001032720.1:n.457+587A>G | |
| NM_005214.4:c.567+33A>G | NP_005205.2:n.567+33A>G | |
| XR_241294.1:n.707+33A>G | ||
| NM_001037631.3:c.457+587A>G | NP_001032720.1:n.457+587A>G | |
| NM_005214.5:c.567+33A>G MANE Select | NP_005205.2:n.567+33A>G |