Linked Data
dbSNP Id:
rs1389881717
gnomAD v2:
8-123972991-C-T
gnomAD v3:
8-122960751-C-T
gnomAD v4:
8-122960751-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.122960751C>T , CM000670.2:g.122960751C>T | GRCh38 |
| NC_000008.10:g.123972991C>T , CM000670.1:g.123972991C>T | GRCh37 |
| NC_000008.9:g.124042172C>T | NCBI36 |
| NG_046951.1:g.184403C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314393.6:c.*4+6723C>T MANE Select | ENSP00000314709.4:n.*4+6723C>T | |
| ENST00000314393.5:c.*4+6723C>T | ENSP00000314709.4:n.*4+6723C>T | |
| NM_014943.3:c.*4+6723C>T | NP_055758.1:n.*4+6723C>T | |
| XM_005250836.3:c.*4+6723C>T | XP_005250893.1:n.*4+6723C>T | |
| XM_005250837.3:c.*4+6723C>T | XP_005250894.1:n.*4+6723C>T | |
| XM_011516931.1:c.*4+6723C>T | XP_011515233.1:n.*4+6723C>T | |
| XM_011516932.1:c.*4+6723C>T | XP_011515234.1:n.*4+6723C>T | |
| NM_001362797.1:c.*4+6723C>T | NP_001349726.1:n.*4+6723C>T | |
| NM_014943.4:c.*4+6723C>T | NP_055758.1:n.*4+6723C>T | |
| XM_005250836.5:c.*4+6723C>T | XP_005250893.1:n.*4+6723C>T | |
| XM_011516932.3:c.*4+6723C>T | XP_011515234.1:n.*4+6723C>T | |
| NM_014943.5:c.*4+6723C>T MANE Select | NP_055758.1:n.*4+6723C>T | |
| NM_001362797.2:c.*4+6723C>T | NP_001349726.1:n.*4+6723C>T |