Linked Data
dbSNP Id:
rs2665390
gnomAD v2:
3-156397749-C-T
gnomAD v3:
3-156679960-C-T
gnomAD v4:
3-156679960-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.156679960C>T , CM000665.2:g.156679960C>T | GRCh38 |
| NC_000003.11:g.156397749C>T , CM000665.1:g.156397749C>T | GRCh37 |
| NC_000003.10:g.157880443C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295924.12:c.917+1346C>T MANE Select | ENSP00000295924.7:n.917+1346C>T | |
| ENST00000295924.11:c.917+1346C>T | ENSP00000295924.7:n.917+1346C>T | |
| ENST00000461166.5:c.917+1346C>T | ENSP00000420612.1:n.917+1346C>T | |
| ENST00000473702.5:c.917+1346C>T | ENSP00000419982.1:n.917+1346C>T | |
| ENST00000481853.5:c.917+1346C>T | ENSP00000418829.1:n.917+1346C>T | |
| ENST00000486483.5:c.917+1346C>T | ENSP00000418757.1:n.917+1346C>T | |
| ENST00000542783.5:c.917+1346C>T | ENSP00000438345.1:n.917+1346C>T | |
| NM_001184717.1:c.917+1346C>T | NP_001171646.1:n.917+1346C>T | |
| NM_001184718.1:c.917+1346C>T | NP_001171647.1:n.917+1346C>T | |
| NM_015508.4:c.917+1346C>T | NP_056323.2:n.917+1346C>T | |
| XM_011512668.1:c.917+1346C>T | XP_011510970.1:n.917+1346C>T | |
| XM_011512669.1:c.918-514C>T | XP_011510971.1:n.918-514C>T | |
| XR_001740978.1:n.1340C>T | ||
| NM_015508.5:c.917+1346C>T MANE Select | NP_056323.2:n.917+1346C>T | |
| NM_001184718.2:c.917+1346C>T | NP_001171647.1:n.917+1346C>T |