Linked Data
dbSNP Id:
rs12348435
gnomAD v2:
9-28600142-A-C
gnomAD v3:
9-28600144-A-C
gnomAD v4:
9-28600144-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.28600144A>C , CM000671.2:g.28600144A>C | GRCh38 |
| NC_000009.11:g.28600142A>C , CM000671.1:g.28600142A>C | GRCh37 |
| NC_000009.10:g.28590142A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698399.1:c.-314+70056T>G MANE Select | ENSP00000513694.1:n.-314+70056T>G | |
| ENST00000698400.1:c.-529+70056T>G | ENSP00000513695.1:n.-529+70056T>G | |
| ENST00000698401.1:c.-684+70056T>G | ENSP00000513696.1:n.-684+70056T>G | |
| ENST00000698402.1:c.-469+70056T>G | ENSP00000513697.1:n.-469+70056T>G | |
| ENST00000698403.1:c.-690+70056T>G | ENSP00000513698.1:n.-690+70056T>G | |
| ENST00000698404.1:c.-425+70056T>G | ENSP00000513699.1:n.-425+70056T>G | |
| ENST00000308675.5:c.-360+70056T>G | ENSP00000310126.3:n.-360+70056T>G | |
| ENST00000379992.6:c.-365+70056T>G | ENSP00000369328.1:n.-365+70056T>G | |
| ENST00000613945.3:c.-309+70056T>G | ENSP00000479634.1:n.-309+70056T>G | |
| NM_001258282.1:c.-314+70056T>G | NP_001245211.1:n.-314+70056T>G | |
| NM_152570.2:c.-365+70056T>G | NP_689783.1:n.-365+70056T>G | |
| XM_011517715.1:c.-430-38170T>G | XP_011516017.1:n.-430-38170T>G | |
| XM_011517716.1:c.-314+70056T>G | XP_011516018.1:n.-314+70056T>G | |
| XM_011517717.1:c.-358+70056T>G | XP_011516019.1:n.-358+70056T>G | |
| XM_011517718.1:c.-314+70056T>G | XP_011516020.1:n.-314+70056T>G | |
| XM_011517719.1:c.-281+70056T>G | XP_011516021.1:n.-281+70056T>G | |
| XR_929534.1:n.736-883A>C | ||
| NM_001258282.2:c.-314+70056T>G | NP_001245211.1:n.-314+70056T>G | |
| NM_001354574.1:c.-281+70056T>G | NP_001341503.1:n.-281+70056T>G | |
| NM_001354575.1:c.-314+70056T>G | NP_001341504.1:n.-314+70056T>G | |
| NM_152570.3:c.-365+70056T>G | NP_689783.1:n.-365+70056T>G | |
| XM_017014303.2:c.-3183-38170T>G | XP_016869792.1:n.-3183-38170T>G | |
| XR_001746186.2:n.2240+70056T>G | ||
| XR_001746641.1:n.2106A>C | ||
| XR_929534.2:n.1213-883A>C | ||
| NM_001258282.3:c.-314+70056T>G MANE Select | NP_001245211.1:n.-314+70056T>G | |
| NM_001354574.2:c.-281+70056T>G | NP_001341503.1:n.-281+70056T>G | |
| NM_001354575.2:c.-314+70056T>G | NP_001341504.1:n.-314+70056T>G | |
| NM_152570.4:c.-365+70056T>G | NP_689783.1:n.-365+70056T>G |