Linked Data
dbSNP Id:
rs908765861
gnomAD v2:
7-30670955-C-T
gnomAD v3:
7-30631339-C-T
gnomAD v4:
7-30631339-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30631339C>T , CM000669.2:g.30631339C>T | GRCh38 |
| NC_000007.13:g.30670955C>T , CM000669.1:g.30670955C>T | GRCh37 |
| NC_000007.12:g.30637480C>T | NCBI36 |
| NG_007942.1:g.41775C>T , LRG_243:g.41775C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389266.8:c.1810-109C>T MANE Select | ENSP00000373918.3:n.1810-109C>T | |
| ENST00000444666.6:c.*231-109C>T | ENSP00000415447.2:n.*231-109C>T | |
| ENST00000465748.2:n.1291-109C>T | ||
| ENST00000470392.2:n.4569C>T | ||
| ENST00000485784.2:n.4558C>T | ||
| ENST00000496643.2:n.2796C>T | ||
| ENST00000674616.1:c.*1524-109C>T | ENSP00000502408.1:n.*1524-109C>T | |
| ENST00000674643.1:c.*910-109C>T | ENSP00000501636.1:n.*910-109C>T | |
| ENST00000674737.1:c.*1148-109C>T | ENSP00000502464.1:n.*1148-109C>T | |
| ENST00000674807.1:c.*83-109C>T | ENSP00000502814.1:n.*83-109C>T | |
| ENST00000674815.1:c.1441-109C>T | ENSP00000502799.1:n.1441-109C>T | |
| ENST00000674851.1:c.1441-109C>T | ENSP00000502451.1:n.1441-109C>T | |
| ENST00000674969.1:n.3683-109C>T | ||
| ENST00000675051.1:c.1609-109C>T | ENSP00000502296.1:n.1609-109C>T | |
| ENST00000675529.1:c.*1680-109C>T | ENSP00000501655.1:n.*1680-109C>T | |
| ENST00000675587.1:n.2642-109C>T | ||
| ENST00000675651.1:c.1810-109C>T | ENSP00000502513.1:n.1810-109C>T | |
| ENST00000675693.1:c.1642-109C>T | ENSP00000502174.1:n.1642-109C>T | |
| ENST00000675810.1:c.1708-109C>T | ENSP00000502743.1:n.1708-109C>T | |
| ENST00000675859.1:c.*83-908C>T | ENSP00000502033.1:n.*83-908C>T | |
| ENST00000675863.1:n.1818-109C>T | ||
| ENST00000675886.1:n.7850-109C>T | ||
| ENST00000676088.1:c.*1752-109C>T | ENSP00000501884.1:n.*1752-109C>T | |
| ENST00000676140.1:c.*755-109C>T | ENSP00000502571.1:n.*755-109C>T | |
| ENST00000676164.1:c.*1261-109C>T | ENSP00000501986.1:n.*1261-109C>T | |
| ENST00000676210.1:c.*1099-109C>T | ENSP00000502373.1:n.*1099-109C>T | |
| ENST00000676259.1:c.*1242-109C>T | ENSP00000501980.1:n.*1242-109C>T | |
| ENST00000676403.1:c.1810-908C>T | ENSP00000502681.1:n.1810-908C>T | |
| ENST00000389266.7:c.1810-109C>T | ENSP00000373918.3:n.1810-109C>T | |
| ENST00000444666.5:c.465-109C>T | ENSP00000415447.1:n.465-109C>T | |
| ENST00000465748.1:n.181-109C>T | ||
| ENST00000485784.1:n.191C>T | ||
| NM_001316772.1:c.1648-109C>T | NP_001303701.1:n.1648-109C>T | |
| NM_002047.2:c.1810-109C>T , LRG_243t1:c.1810-109C>T | NP_002038.2:n.1810-109C>T | |
| NM_002047.3:c.1810-109C>T | NP_002038.2:n.1810-109C>T | |
| XM_006715686.1:c.1441-109C>T | XP_006715749.1:n.1441-109C>T | |
| XM_006715686.2:c.1441-109C>T | XP_006715749.1:n.1441-109C>T | |
| NM_002047.4:c.1810-109C>T MANE Select | NP_002038.2:n.1810-109C>T |