Linked Data
dbSNP Id:
rs748112808
ExAC:
1:16382140 C / T
gnomAD v2:
1-16382140-C-T
gnomAD v3:
1-16055645-C-T
gnomAD v4:
1-16055645-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16055645C>T , CM000663.2:g.16055645C>T | GRCh38 |
| NC_000001.10:g.16382140C>T , CM000663.1:g.16382140C>T | GRCh37 |
| NC_000001.9:g.16254727C>T | NCBI36 |
| NG_013079.1:g.16894C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682338.1:c.1846-30C>T | ENSP00000507062.1:n.1846-30C>T | |
| ENST00000682793.1:c.1846-30C>T | ENSP00000506910.1:n.1846-30C>T | |
| ENST00000682838.1:c.*1588-33C>T | ENSP00000507652.1:n.*1588-33C>T | |
| ENST00000683578.1:c.1846-33C>T | ENSP00000507430.1:n.1846-33C>T | |
| ENST00000683606.1:n.1452-33C>T | ||
| ENST00000683661.1:n.3381-30C>T | ||
| ENST00000684324.1:c.1846-30C>T | ENSP00000507937.1:n.1846-30C>T | |
| ENST00000684545.1:c.1846-30C>T | ENSP00000506733.1:n.1846-30C>T | |
| ENST00000684624.1:n.1223-30C>T | ||
| ENST00000684714.1:c.*66-30C>T | ENSP00000506861.1:n.*66-30C>T | |
| ENST00000684731.1:n.1173-30C>T | ||
| ENST00000375679.9:c.1846-30C>T MANE Select | ENSP00000364831.5:n.1846-30C>T | |
| ENST00000375667.7:c.1339-33C>T | ENSP00000364819.3:n.1339-33C>T | |
| ENST00000375679.8:c.1846-30C>T | ENSP00000364831.4:n.1846-30C>T | |
| ENST00000431772.1:c.313-33C>T | ENSP00000389344.1:n.313-33C>T | |
| ENST00000619181.4:c.1294-1542C>T | ENSP00000483866.1:n.1294-1542C>T | |
| NM_000085.4:c.1846-30C>T | NP_000076.2:n.1846-30C>T | |
| NM_001165945.2:c.1339-33C>T | NP_001159417.2:n.1339-33C>T | |
| XM_011540619.1:c.1687-30C>T | XP_011538921.1:n.1687-30C>T | |
| XM_011540621.1:c.1195-30C>T | XP_011538923.1:n.1195-30C>T | |
| NM_000085.5:c.1846-30C>T MANE Select | NP_000076.2:n.1846-30C>T |