Linked Data
dbSNP Id:
rs370567650
ExAC:
8:11616034 A / T
gnomAD v2:
8-11616034-A-T
gnomAD v3:
8-11758525-A-T
gnomAD v4:
8-11758525-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11758525A>T , CM000670.2:g.11758525A>T | GRCh38 |
| NC_000008.10:g.11616034A>T , CM000670.1:g.11616034A>T | GRCh37 |
| NC_000008.9:g.11653443A>T | NCBI36 |
| NG_008177.2:g.86607A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622443.3:c.*50A>T | ENSP00000482268.2:n.*50A>T | |
| ENST00000532059.6:c.*50A>T MANE Select | ENSP00000435712.1:n.*50A>T | |
| ENST00000335135.8:c.*50A>T | ENSP00000334458.4:n.*50A>T | |
| ENST00000526021.1:n.824A>T | ||
| ENST00000528712.5:c.*50A>T | ENSP00000435043.1:n.*50A>T | |
| ENST00000622443.2:c.1376A>T | ENSP00000482268.1:n.1376A>T | |
| NM_001308093.1:c.*50A>T | NP_001295022.1:n.*50A>T | |
| NM_001308094.1:c.*50A>T | NP_001295023.1:n.*50A>T | |
| NM_002052.3:c.*50A>T | NP_002043.2:n.*50A>T | |
| NM_002052.4:c.*50A>T | NP_002043.2:n.*50A>T | |
| XM_005272385.3:c.*50A>T | XP_005272442.1:n.*50A>T | |
| XM_005272386.1:c.*50A>T | XP_005272443.1:n.*50A>T | |
| XM_006716248.1:c.*50A>T | XP_006716311.1:n.*50A>T | |
| XM_011543817.1:c.*50A>T | XP_011542119.1:n.*50A>T | |
| XM_011543818.1:c.*50A>T | XP_011542120.1:n.*50A>T | |
| XM_005272385.4:c.*50A>T | XP_005272442.1:n.*50A>T | |
| XM_011543817.3:c.*50A>T | XP_011542119.1:n.*50A>T | |
| XM_011543818.2:c.*50A>T | XP_011542120.1:n.*50A>T | |
| XM_017013312.2:c.*50A>T | XP_016868801.1:n.*50A>T | |
| NM_001308093.3:c.*50A>T MANE Select | NP_001295022.1:n.*50A>T | |
| NM_001308094.2:c.*50A>T | NP_001295023.1:n.*50A>T | |
| NM_001374273.1:c.*50A>T | NP_001361202.1:n.*50A>T | |
| NM_001374274.1:c.*50A>T | NP_001361203.1:n.*50A>T | |
| NM_002052.5:c.*50A>T | NP_002043.2:n.*50A>T |