gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.80147112C>G , CM000669.2:g.80147112C>G | GRCh38 |
| NC_000007.13:g.79776428C>G , CM000669.1:g.79776428C>G | GRCh37 |
| NC_000007.12:g.79614364C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351004.8:c.118+11834C>G | ENSP00000343027.3:n.118+11834C>G | |
| ENST00000418742.6:n.135+11689C>G | ||
| ENST00000442586.2:c.118+11834C>G | ENSP00000391439.2:n.118+11834C>G | |
| ENST00000457358.7:c.-39+11040C>G | ENSP00000410572.2:n.-39+11040C>G | |
| ENST00000647742.1:c.118+11834C>G | ENSP00000498098.1:n.118+11834C>G | |
| ENST00000648098.1:c.118+11834C>G | ENSP00000497717.1:n.118+11834C>G | |
| ENST00000648306.1:c.118+11834C>G | ENSP00000497773.1:n.118+11834C>G | |
| ENST00000648375.1:c.118+11834C>G | ENSP00000498111.1:n.118+11834C>G | |
| ENST00000648412.1:c.118+11834C>G | ENSP00000497051.1:n.118+11834C>G | |
| ENST00000648476.1:c.118+11834C>G | ENSP00000497179.1:n.118+11834C>G | |
| ENST00000648663.1:c.118+11834C>G | ENSP00000497379.1:n.118+11834C>G | |
| ENST00000648832.1:c.118+11834C>G | ENSP00000497765.1:n.118+11834C>G | |
| ENST00000648877.1:c.118+11834C>G | ENSP00000497760.1:n.118+11834C>G | |
| ENST00000648953.1:c.118+11834C>G | ENSP00000496800.1:n.118+11834C>G | |
| ENST00000649214.1:c.118+11834C>G | ENSP00000497058.1:n.118+11834C>G | |
| ENST00000649225.1:c.118+11834C>G | ENSP00000496829.1:n.118+11834C>G | |
| ENST00000649267.1:c.118+11834C>G | ENSP00000497315.1:n.118+11834C>G | |
| ENST00000649487.1:c.118+11834C>G | ENSP00000498091.1:n.118+11834C>G | |
| ENST00000649634.1:c.118+11834C>G | ENSP00000498159.1:n.118+11834C>G | |
| ENST00000649796.2:c.118+11834C>G MANE Select | ENSP00000497260.1:n.118+11834C>G | |
| ENST00000649855.1:c.118+11834C>G | ENSP00000497754.1:n.118+11834C>G | |
| ENST00000649922.1:c.113+11839C>G | ENSP00000496836.1:n.113+11839C>G | |
| ENST00000650431.1:c.118+11834C>G | ENSP00000497785.1:n.118+11834C>G | |
| ENST00000351004.7:c.118+11834C>G | ENSP00000343027.3:n.118+11834C>G | |
| ENST00000418742.5:c.-39+11689C>G | ENSP00000389435.1:n.-39+11689C>G | |
| ENST00000457358.6:c.-39+11040C>G | ENSP00000410572.2:n.-39+11040C>G | |
| ENST00000490206.1:n.344+11834C>G | ||
| NM_001256414.1:c.-39+11040C>G | NP_001243343.1:n.-39+11040C>G | |
| NM_002069.5:c.118+11834C>G | NP_002060.4:n.118+11834C>G | |
| NM_002069.6:c.118+11834C>G MANE Select | NP_002060.4:n.118+11834C>G | |
| NM_001256414.2:c.-39+11040C>G | NP_001243343.1:n.-39+11040C>G |