Linked Data
dbSNP Id:
rs6585424
gnomAD v2:
10-81933748-A-G
gnomAD v3:
10-80173992-A-G
gnomAD v4:
10-80173992-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80173992A>G , CM000672.2:g.80173992A>G | GRCh38 |
| NC_000010.10:g.81933748A>G , CM000672.1:g.81933748A>G | GRCh37 |
| NC_000010.9:g.81923728A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000422982.8:c.-8-1123T>C MANE Select | ENSP00000404412.2:n.-8-1123T>C | |
| ENST00000372231.7:c.-8-1123T>C | ENSP00000361305.3:n.-8-1123T>C | |
| ENST00000422982.7:c.-8-1123T>C | ENSP00000404412.2:n.-8-1123T>C | |
| ENST00000438331.5:c.-8-1123T>C | ENSP00000398610.1:n.-8-1123T>C | |
| ENST00000463657.1:n.745-1123T>C | ||
| NM_001157.2:c.-8-1123T>C | NP_001148.1:n.-8-1123T>C | |
| NM_001278407.1:c.-8-1123T>C | NP_001265336.1:n.-8-1123T>C | |
| NM_001278408.1:c.-8-1123T>C | NP_001265337.1:n.-8-1123T>C | |
| NM_001278409.1:c.-376-1123T>C | NP_001265338.1:n.-376-1123T>C | |
| NM_145868.1:c.-8-1123T>C | NP_665875.1:n.-8-1123T>C | |
| NM_145869.1:c.-8-1123T>C | NP_665876.1:n.-8-1123T>C | |
| XM_005269742.1:c.-8-1123T>C | XP_005269799.1:n.-8-1123T>C | |
| XM_006717813.1:c.-8-1123T>C | XP_006717876.1:n.-8-1123T>C | |
| XM_006717814.2:c.-8-1123T>C | XP_006717877.1:n.-8-1123T>C | |
| XM_011539735.1:c.-8-1123T>C | XP_011538037.1:n.-8-1123T>C | |
| XM_011539736.1:c.-8-1123T>C | XP_011538038.1:n.-8-1123T>C | |
| XM_006717813.2:c.-8-1123T>C | XP_006717876.1:n.-8-1123T>C | |
| XM_011539736.3:c.-8-1123T>C | XP_011538038.1:n.-8-1123T>C | |
| NM_145868.2:c.-8-1123T>C MANE Select | NP_665875.1:n.-8-1123T>C | |
| NM_001157.3:c.-8-1123T>C | NP_001148.1:n.-8-1123T>C | |
| NM_001278407.2:c.-8-1123T>C | NP_001265336.1:n.-8-1123T>C | |
| NM_001278409.2:c.-376-1123T>C | NP_001265338.1:n.-376-1123T>C | |
| NM_145869.2:c.-8-1123T>C | NP_665876.1:n.-8-1123T>C | |
| NM_001278408.2:c.-8-1123T>C | NP_001265337.1:n.-8-1123T>C |