Linked Data
dbSNP Id:
rs17100978
gnomAD v2:
1-78222958-T-C
gnomAD v3:
1-77757273-T-C
gnomAD v4:
1-77757273-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.77757273T>C , CM000663.2:g.77757273T>C | GRCh38 |
| NC_000001.10:g.78222958T>C , CM000663.1:g.78222958T>C | GRCh37 |
| NC_000001.9:g.77995546T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370792.7:c.-138+2370A>G | ENSP00000359828.3:n.-138+2370A>G | |
| ENST00000370793.5:c.-138+2370A>G | ENSP00000359829.1:n.-138+2370A>G | |
| ENST00000370794.7:c.-52+2370A>G MANE Select | ENSP00000359830.3:n.-52+2370A>G | |
| ENST00000524536.5:c.-296+2370A>G | ENSP00000434441.1:n.-296+2370A>G | |
| ENST00000524778.1:c.-52+2428A>G | ENSP00000436441.1:n.-52+2428A>G | |
| ENST00000525113.5:n.146+2428A>G | ||
| ENST00000528150.1:n.169+2370A>G | ||
| ENST00000530709.5:c.-177+2075A>G | ENSP00000433283.1:n.-177+2075A>G | |
| NM_015017.4:c.-138+2370A>G | NP_055832.3:n.-138+2370A>G | |
| NM_201624.2:c.-52+2370A>G | NP_963918.1:n.-52+2370A>G | |
| NM_201626.2:c.-138+2370A>G | NP_963920.1:n.-138+2370A>G | |
| XM_017000722.2:c.-52+2370A>G | XP_016856211.1:n.-52+2370A>G | |
| XM_017000723.2:c.-52+2370A>G | XP_016856212.1:n.-52+2370A>G | |
| XM_017000724.2:c.-52+2370A>G | XP_016856213.1:n.-52+2370A>G | |
| XM_017000725.2:c.-52+2370A>G | XP_016856214.1:n.-52+2370A>G | |
| XM_017000726.2:c.-52+2370A>G | XP_016856215.1:n.-52+2370A>G | |
| XM_017000727.2:c.-548+2370A>G | XP_016856216.1:n.-548+2370A>G | |
| NM_001377430.1:c.-138+2370A>G | NP_001364359.1:n.-138+2370A>G | |
| NM_001377431.1:c.-52+2370A>G | NP_001364360.1:n.-52+2370A>G | |
| NM_001377432.1:c.-138+2370A>G | NP_001364361.1:n.-138+2370A>G | |
| NM_001377433.1:c.-138+2370A>G | NP_001364362.1:n.-138+2370A>G | |
| NM_001377434.1:c.-52+2370A>G | NP_001364363.1:n.-52+2370A>G | |
| NM_001377435.1:c.-52+2370A>G | NP_001364364.1:n.-52+2370A>G | |
| NM_001377436.1:c.-52+2370A>G | NP_001364365.1:n.-52+2370A>G | |
| NM_001377437.1:c.-52+2370A>G | NP_001364366.1:n.-52+2370A>G | |
| NM_001377438.1:c.-548+2370A>G | NP_001364367.1:n.-548+2370A>G | |
| NM_001377439.1:c.-727+2370A>G | NP_001364368.1:n.-727+2370A>G | |
| NM_015017.5:c.-138+2370A>G | NP_055832.3:n.-138+2370A>G | |
| NM_201624.3:c.-52+2370A>G MANE Select | NP_963918.1:n.-52+2370A>G | |
| NM_201626.3:c.-138+2370A>G | NP_963920.1:n.-138+2370A>G |