Linked Data
dbSNP Id:
rs4756846
gnomAD v2:
11-16403511-T-C
gnomAD v3:
11-16381965-T-C
gnomAD v4:
11-16381965-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.16381965T>C , CM000673.2:g.16381965T>C | GRCh38 |
| NC_000011.9:g.16403511T>C , CM000673.1:g.16403511T>C | GRCh37 |
| NC_000011.8:g.16360087T>C | NCBI36 |
| NG_012881.1:g.99425A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000527619.6:c.-5+20694A>G | ENSP00000434455.2:n.-5+20694A>G | |
| ENST00000655819.1:c.5+20694A>G | ENSP00000499737.1:n.5+20694A>G | |
| ENST00000396356.7:c.-4-40713A>G | ENSP00000379644.3:n.-4-40713A>G | |
| ENST00000526673.1:c.-5+323A>G | ENSP00000434892.1:n.-5+323A>G | |
| ENST00000527619.5:c.5+20694A>G | ENSP00000434455.1:n.5+20694A>G | |
| ENST00000528252.5:c.-5+26733A>G | ENSP00000432134.1:n.-5+26733A>G | |
| ENST00000528429.5:c.-5+20835A>G | ENSP00000433233.1:n.-5+20835A>G | |
| ENST00000529469.1:c.-4-40713A>G | ENSP00000432596.1:n.-4-40713A>G | |
| ENST00000530378.5:c.-4-40713A>G | ENSP00000432577.1:n.-4-40713A>G | |
| ENST00000533411.5:c.-5+15493A>G | ENSP00000436170.1:n.-5+15493A>G | |
| ENST00000533658.5:n.334-40713A>G | ||
| NM_001145811.1:c.-5+26733A>G | NP_001139283.1:n.-5+26733A>G | |
| NM_001145819.1:c.35+20835A>G | NP_001139291.1:n.35+20835A>G | |
| NM_017508.2:c.5+20694A>G | NP_059978.1:n.5+20694A>G | |
| NM_033326.3:c.-4-40713A>G | NP_201583.2:n.-4-40713A>G | |
| NM_001145811.2:c.-5+26733A>G | NP_001139283.1:n.-5+26733A>G | |
| NM_001145819.2:c.-5+20835A>G | NP_001139291.2:n.-5+20835A>G | |
| NM_001367872.1:c.-4-40713A>G | NP_001354801.1:n.-4-40713A>G | |
| NM_017508.3:c.-5+20694A>G | NP_059978.2:n.-5+20694A>G |