Linked Data
dbSNP Id:
rs2023239
gnomAD v2:
6-88860482-T-C
gnomAD v3:
6-88150763-T-C
gnomAD v4:
6-88150763-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.88150763T>C , CM000668.2:g.88150763T>C | GRCh38 |
| NC_000006.11:g.88860482T>C , CM000668.1:g.88860482T>C | GRCh37 |
| NC_000006.10:g.88917201T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369499.3:c.-63-5426A>G | ENSP00000358511.2:n.-63-5426A>G | |
| ENST00000369501.3:c.-63-5426A>G MANE Select | ENSP00000358513.2:n.-63-5426A>G | |
| ENST00000428600.3:c.-63-5426A>G | ENSP00000412192.2:n.-63-5426A>G | |
| ENST00000551417.2:c.-206-2957A>G | ENSP00000446702.2:n.-206-2957A>G | |
| ENST00000369499.2:c.-63-5426A>G | ENSP00000358511.2:n.-63-5426A>G | |
| ENST00000369501.2:c.-63-5426A>G | ENSP00000358513.2:n.-63-5426A>G | |
| ENST00000428600.2:c.-63-5426A>G | ENSP00000412192.2:n.-63-5426A>G | |
| ENST00000551417.1:c.-206-2957A>G | ENSP00000446702.1:n.-206-2957A>G | |
| NM_001160226.1:c.-206-2957A>G | NP_001153698.1:n.-206-2957A>G | |
| NM_001160258.1:c.-206-2957A>G | NP_001153730.1:n.-206-2957A>G | |
| NM_001160259.1:c.-63-5426A>G | NP_001153731.1:n.-63-5426A>G | |
| NM_016083.4:c.-63-5426A>G | NP_057167.2:n.-63-5426A>G | |
| XM_006715330.2:c.-63-5426A>G | XP_006715393.1:n.-63-5426A>G | |
| XM_011535424.1:c.-254-2957A>G | XP_011533726.1:n.-254-2957A>G | |
| XM_011535425.1:c.-254-2957A>G | XP_011533727.1:n.-254-2957A>G | |
| XM_011535426.1:c.-412-123A>G | XP_011533728.1:n.-412-123A>G | |
| XM_011535427.1:c.-365-170A>G | XP_011533729.1:n.-365-170A>G | |
| XM_011535428.1:c.-63-5426A>G | XP_011533730.1:n.-63-5426A>G | |
| NM_001160226.2:c.-206-2957A>G | NP_001153698.1:n.-206-2957A>G | |
| NM_001160258.2:c.-206-2957A>G | NP_001153730.1:n.-206-2957A>G | |
| NM_001160259.2:c.-63-5426A>G | NP_001153731.1:n.-63-5426A>G | |
| NM_001365869.1:c.-63-5426A>G | NP_001352798.1:n.-63-5426A>G | |
| NM_001365870.1:c.-254-2957A>G | NP_001352799.1:n.-254-2957A>G | |
| NM_001365872.1:c.-412-123A>G | NP_001352801.1:n.-412-123A>G | |
| NM_001365874.1:c.-63-5426A>G | NP_001352803.1:n.-63-5426A>G | |
| NM_016083.5:c.-63-5426A>G | NP_057167.2:n.-63-5426A>G | |
| XM_006715330.3:c.-63-5426A>G | XP_006715393.1:n.-63-5426A>G | |
| XM_011535425.2:c.-254-2957A>G | XP_011533727.1:n.-254-2957A>G | |
| XM_017010240.2:c.-63-5426A>G | XP_016865729.1:n.-63-5426A>G | |
| NM_001160226.3:c.-206-2957A>G | NP_001153698.1:n.-206-2957A>G | |
| NM_001160258.3:c.-206-2957A>G | NP_001153730.1:n.-206-2957A>G | |
| NM_001160259.3:c.-63-5426A>G | NP_001153731.1:n.-63-5426A>G | |
| NM_001365869.2:c.-63-5426A>G | NP_001352798.1:n.-63-5426A>G | |
| NM_001365870.2:c.-254-2957A>G | NP_001352799.1:n.-254-2957A>G | |
| NM_001365872.2:c.-412-123A>G | NP_001352801.1:n.-412-123A>G | |
| NM_001365874.2:c.-63-5426A>G | NP_001352803.1:n.-63-5426A>G | |
| NM_001370545.1:c.-63-5426A>G | NP_001357474.1:n.-63-5426A>G | |
| NM_001370546.1:c.-63-5426A>G | NP_001357475.1:n.-63-5426A>G | |
| NM_001370547.1:c.-254-2957A>G | NP_001357476.1:n.-254-2957A>G | |
| NM_016083.6:c.-63-5426A>G MANE Select | NP_057167.2:n.-63-5426A>G | |
| NM_001365874.3:c.-63-5426A>G | NP_001352803.1:n.-63-5426A>G |