Linked Data
dbSNP Id:
rs375538518
ExAC:
8:22021590 C / T
gnomAD v2:
8-22021590-C-T
gnomAD v3:
8-22164077-C-T
gnomAD v4:
8-22164077-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.22164077C>T , CM000670.2:g.22164077C>T | GRCh38 |
| NC_000008.10:g.22021590C>T , CM000670.1:g.22021590C>T | GRCh37 |
| NC_000008.9:g.22077535C>T | NCBI36 |
| NG_016968.1:g.7407C>T | |
| NG_029659.1:g.3938C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000679463.1:c.*18+18C>T MANE Select | ENSP00000505152.1:n.*18+18C>T | |
| ENST00000318561.7:c.*18+18C>T | ENSP00000316152.3:n.*18+18C>T | |
| ENST00000520605.5:c.277-189C>T | ENSP00000430266.1:n.277-189C>T | |
| ENST00000521315.5:c.*36C>T | ENSP00000430410.1:n.*36C>T | |
| ENST00000524255.5:c.*10+26C>T | ENSP00000429552.1:n.*10+26C>T | |
| NM_001172357.1:c.*36C>T | NP_001165828.1:n.*36C>T | |
| NM_001172410.1:c.*10+26C>T | NP_001165881.1:n.*10+26C>T | |
| NM_003018.3:c.*18+18C>T | NP_003009.2:n.*18+18C>T | |
| XM_006716379.2:c.*18+18C>T | XP_006716442.1:n.*18+18C>T | |
| XM_006716380.2:c.*10+26C>T | XP_006716443.1:n.*10+26C>T | |
| XM_011544612.1:c.*18+18C>T | XP_011542914.1:n.*18+18C>T | |
| XM_011544613.1:c.*10+26C>T | XP_011542915.1:n.*10+26C>T | |
| NM_001317778.1:c.*18+18C>T | NP_001304707.1:n.*18+18C>T | |
| NM_001317779.1:c.*18+18C>T | NP_001304708.1:n.*18+18C>T | |
| NM_001317780.1:c.*10+26C>T | NP_001304709.1:n.*10+26C>T | |
| XM_011544613.3:c.*10+26C>T | XP_011542915.1:n.*10+26C>T | |
| NM_001172357.2:c.*36C>T | NP_001165828.1:n.*36C>T | |
| NM_001172410.2:c.*10+26C>T | NP_001165881.1:n.*10+26C>T | |
| NM_001317778.2:c.*18+18C>T MANE Select | NP_001304707.1:n.*18+18C>T | |
| NM_001317779.2:c.*18+18C>T | NP_001304708.1:n.*18+18C>T | |
| NM_001317780.2:c.*10+26C>T | NP_001304709.1:n.*10+26C>T | |
| NM_003018.4:c.*18+18C>T | NP_003009.2:n.*18+18C>T | |
| NM_001385653.1:c.*20+16C>T | NP_001372582.1:n.*20+16C>T | |
| NM_001385654.1:c.*10+26C>T | NP_001372583.1:n.*10+26C>T | |
| NM_001385655.1:c.*18+18C>T | NP_001372584.1:n.*18+18C>T | |
| NM_001385656.1:c.*36C>T | NP_001372585.1:n.*36C>T | |
| NM_001385657.1:c.*10+26C>T | NP_001372586.1:n.*10+26C>T | |
| NM_001385658.1:c.*18+18C>T | NP_001372587.1:n.*18+18C>T | |
| NM_001385659.1:c.*18+18C>T | NP_001372588.1:n.*18+18C>T | |
| NM_001385660.1:c.*18+18C>T | NP_001372589.1:n.*18+18C>T |