Linked Data
dbSNP Id:
rs1435879
gnomAD v2:
2-115492887-A-G
gnomAD v3:
2-114735310-A-G
gnomAD v4:
2-114735310-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.114735310A>G , CM000664.2:g.114735310A>G | GRCh38 |
| NC_000002.11:g.115492887A>G , CM000664.1:g.115492887A>G | GRCh37 |
| NC_000002.10:g.115209357A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000410059.6:c.60+292472A>G MANE Select | ENSP00000386565.1:n.60+292472A>G | |
| ENST00000409163.5:c.-91+271884A>G | ENSP00000387038.1:n.-91+271884A>G | |
| ENST00000410059.5:c.60+292472A>G | ENSP00000386565.1:n.60+292472A>G | |
| ENST00000436732.5:c.-163+292472A>G | ENSP00000391092.1:n.-163+292472A>G | |
| ENST00000461250.5:n.654+28136A>G | ||
| NM_001178036.1:c.-91+271884A>G | NP_001171507.1:n.-91+271884A>G | |
| NM_020868.3:c.60+292472A>G | NP_065919.2:n.60+292472A>G | |
| XM_011511527.1:c.-91+273170A>G | XP_011509829.1:n.-91+273170A>G | |
| NM_001321905.1:c.111+28136A>G | NP_001308834.1:n.111+28136A>G | |
| NM_001321907.1:c.60+292472A>G | NP_001308836.1:n.60+292472A>G | |
| NM_001321908.1:c.85+271884A>G | NP_001308837.1:n.85+271884A>G | |
| NM_001321910.1:c.-91+28136A>G | NP_001308839.1:n.-91+28136A>G | |
| NM_001321911.1:c.-91+273170A>G | NP_001308840.1:n.-91+273170A>G | |
| NM_001321912.1:c.-91+271884A>G | NP_001308841.1:n.-91+271884A>G | |
| NM_001321913.1:c.-588+292472A>G | NP_001308842.1:n.-588+292472A>G | |
| NM_020868.4:c.60+292472A>G | NP_065919.2:n.60+292472A>G | |
| NM_001178036.2:c.-91+271884A>G | NP_001171507.2:n.-91+271884A>G | |
| NM_001321905.2:c.111+28136A>G | NP_001308834.2:n.111+28136A>G | |
| NM_001321907.2:c.60+292472A>G | NP_001308836.2:n.60+292472A>G | |
| NM_001321908.2:c.85+271884A>G | NP_001308837.2:n.85+271884A>G | |
| NM_001321910.2:c.-91+28136A>G | NP_001308839.2:n.-91+28136A>G | |
| NM_001321911.2:c.-91+273170A>G | NP_001308840.2:n.-91+273170A>G | |
| NM_001321912.2:c.-91+271884A>G | NP_001308841.2:n.-91+271884A>G | |
| NM_001321913.2:c.-588+292472A>G | NP_001308842.2:n.-588+292472A>G | |
| NM_020868.6:c.60+292472A>G MANE Select | NP_065919.3:n.60+292472A>G | |
| NM_001178036.3:c.-91+271884A>G | NP_001171507.2:n.-91+271884A>G | |
| NM_001321905.3:c.111+28136A>G | NP_001308834.2:n.111+28136A>G | |
| NM_001321907.3:c.60+292472A>G | NP_001308836.2:n.60+292472A>G | |
| NM_001321908.3:c.85+271884A>G | NP_001308837.2:n.85+271884A>G | |
| NM_001321910.3:c.-91+28136A>G | NP_001308839.2:n.-91+28136A>G | |
| NM_001321911.3:c.-91+273170A>G | NP_001308840.2:n.-91+273170A>G | |
| NM_001321912.3:c.-91+271884A>G | NP_001308841.2:n.-91+271884A>G | |
| NM_001321913.3:c.-588+292472A>G | NP_001308842.2:n.-588+292472A>G | |
| NM_001399849.1:c.-163+292472A>G | NP_001386778.1:n.-163+292472A>G |