gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.115431152C>G , CM000673.2:g.115431152C>G | GRCh38 |
| NC_000011.9:g.115301871C>G , CM000673.1:g.115301871C>G | GRCh37 |
| NC_000011.8:g.114807081C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331581.11:c.124+73119G>C MANE Select | ENSP00000329797.6:n.124+73119G>C | |
| ENST00000331581.10:c.124+73119G>C | ENSP00000329797.6:n.124+73119G>C | |
| ENST00000452722.7:c.124+73119G>C | ENSP00000395359.2:n.124+73119G>C | |
| ENST00000536727.5:c.124+73119G>C | ENSP00000440322.1:n.124+73119G>C | |
| ENST00000536781.1:n.146-31639G>C | ||
| ENST00000537058.5:c.124+73119G>C | ENSP00000439817.1:n.124+73119G>C | |
| ENST00000537140.5:n.253+73119G>C | ||
| ENST00000540951.1:c.200+14609G>C | ENSP00000445375.1:n.200+14609G>C | |
| ENST00000541434.5:n.124+73119G>C | ||
| ENST00000542447.6:c.124+73119G>C | ENSP00000439176.1:n.124+73119G>C | |
| ENST00000543249.1:c.75+73731G>C | ||
| ENST00000545380.5:c.119+73119G>C | ||
| NM_001098517.1:c.124+73119G>C | NP_001091987.1:n.124+73119G>C | |
| NM_001301043.1:c.124+73119G>C | NP_001287972.1:n.124+73119G>C | |
| NM_001301044.1:c.124+73119G>C | NP_001287973.1:n.124+73119G>C | |
| NM_001301045.1:c.124+73119G>C | NP_001287974.1:n.124+73119G>C | |
| NM_014333.3:c.124+73119G>C | NP_055148.3:n.124+73119G>C | |
| XM_005271494.2:c.124+73119G>C | XP_005271551.1:n.124+73119G>C | |
| XM_005271494.3:c.124+73119G>C | XP_005271551.1:n.124+73119G>C | |
| NM_001098517.2:c.124+73119G>C | NP_001091987.1:n.124+73119G>C | |
| NM_001301043.2:c.124+73119G>C MANE Select | NP_001287972.1:n.124+73119G>C | |
| NM_001301044.2:c.124+73119G>C | NP_001287973.1:n.124+73119G>C | |
| NM_001301045.2:c.124+73119G>C | NP_001287974.1:n.124+73119G>C | |
| NM_014333.4:c.124+73119G>C | NP_055148.3:n.124+73119G>C |