Linked Data
dbSNP Id:
rs1169149785
gnomAD v2:
6-88873001-G-A
gnomAD v3:
6-88163282-G-A
gnomAD v4:
6-88163282-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.88163282G>A , CM000668.2:g.88163282G>A | GRCh38 |
| NC_000006.11:g.88873001G>A , CM000668.1:g.88873001G>A | GRCh37 |
| NC_000006.10:g.88929720G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369499.3:c.-64+975C>T | ENSP00000358511.2:n.-64+975C>T | |
| ENST00000369501.3:c.-64+2521C>T MANE Select | ENSP00000358513.2:n.-64+2521C>T | |
| ENST00000551417.2:c.-207+975C>T | ENSP00000446702.2:n.-207+975C>T | |
| ENST00000369499.2:c.-64+975C>T | ENSP00000358511.2:n.-64+975C>T | |
| ENST00000369501.2:c.-64+2521C>T | ENSP00000358513.2:n.-64+2521C>T | |
| ENST00000551417.1:c.-207+975C>T | ENSP00000446702.1:n.-207+975C>T | |
| NM_001160226.1:c.-207+2521C>T | NP_001153698.1:n.-207+2521C>T | |
| NM_001160258.1:c.-207+975C>T | NP_001153730.1:n.-207+975C>T | |
| NM_001160259.1:c.-64+2465C>T | NP_001153731.1:n.-64+2465C>T | |
| NM_016083.4:c.-64+2521C>T | NP_057167.2:n.-64+2521C>T | |
| XM_006715330.2:c.-64+3294C>T | XP_006715393.1:n.-64+3294C>T | |
| XM_011535424.1:c.-255+2521C>T | XP_011533726.1:n.-255+2521C>T | |
| XM_011535425.1:c.-255+975C>T | XP_011533727.1:n.-255+975C>T | |
| XM_011535426.1:c.-413+975C>T | XP_011533728.1:n.-413+975C>T | |
| XM_011535427.1:c.-366+975C>T | XP_011533729.1:n.-366+975C>T | |
| XM_011535428.1:c.-64+975C>T | XP_011533730.1:n.-64+975C>T | |
| NM_001160226.2:c.-207+2521C>T | NP_001153698.1:n.-207+2521C>T | |
| NM_001160258.2:c.-207+975C>T | NP_001153730.1:n.-207+975C>T | |
| NM_001160259.2:c.-64+2465C>T | NP_001153731.1:n.-64+2465C>T | |
| NM_001365869.1:c.-64+975C>T | NP_001352798.1:n.-64+975C>T | |
| NM_001365870.1:c.-255+2521C>T | NP_001352799.1:n.-255+2521C>T | |
| NM_001365872.1:c.-413+975C>T | NP_001352801.1:n.-413+975C>T | |
| NM_016083.5:c.-64+2521C>T | NP_057167.2:n.-64+2521C>T | |
| XM_006715330.3:c.-64+3294C>T | XP_006715393.1:n.-64+3294C>T | |
| XM_011535425.2:c.-255+975C>T | XP_011533727.1:n.-255+975C>T | |
| XM_017010240.2:c.-64+3908C>T | XP_016865729.1:n.-64+3908C>T | |
| NM_001160226.3:c.-207+2521C>T | NP_001153698.1:n.-207+2521C>T | |
| NM_001160258.3:c.-207+975C>T | NP_001153730.1:n.-207+975C>T | |
| NM_001160259.3:c.-64+2465C>T | NP_001153731.1:n.-64+2465C>T | |
| NM_001365869.2:c.-64+975C>T | NP_001352798.1:n.-64+975C>T | |
| NM_001365870.2:c.-255+2521C>T | NP_001352799.1:n.-255+2521C>T | |
| NM_001365872.2:c.-413+975C>T | NP_001352801.1:n.-413+975C>T | |
| NM_001370545.1:c.-64+3294C>T | NP_001357474.1:n.-64+3294C>T | |
| NM_001370546.1:c.-64+3908C>T | NP_001357475.1:n.-64+3908C>T | |
| NM_001370547.1:c.-255+975C>T | NP_001357476.1:n.-255+975C>T | |
| NM_016083.6:c.-64+2521C>T MANE Select | NP_057167.2:n.-64+2521C>T |