Linked Data
dbSNP Id:
rs1303447354
gnomAD v2:
7-30651832-C-T
gnomAD v3:
7-30612216-C-T
gnomAD v4:
7-30612216-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30612216C>T , CM000669.2:g.30612216C>T | GRCh38 |
| NC_000007.13:g.30651832C>T , CM000669.1:g.30651832C>T | GRCh37 |
| NC_000007.12:g.30618357C>T | NCBI36 |
| NG_007942.1:g.22652C>T , LRG_243:g.22652C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389266.8:c.1002C>T MANE Select | ENSP00000373918.3:p.Ile334= | |
| ENST00000444666.6:c.1002C>T | ENSP00000415447.2:p.Ile334= | |
| ENST00000470392.2:n.1092C>T | ||
| ENST00000478124.6:n.1065C>T | ||
| ENST00000485784.2:n.1081C>T | ||
| ENST00000674616.1:c.*716C>T | ENSP00000502408.1:n.*716C>T | |
| ENST00000674643.1:c.1002C>T | ENSP00000501636.1:p.Ile334= | |
| ENST00000674734.1:n.1498C>T | ||
| ENST00000674737.1:c.*340C>T | ENSP00000502464.1:n.*340C>T | |
| ENST00000674807.1:c.1002C>T | ENSP00000502814.1:p.Ile334= | |
| ENST00000674815.1:c.633C>T | ENSP00000502799.1:p.Ile211= | |
| ENST00000674851.1:c.633C>T | ENSP00000502451.1:p.Ile211= | |
| ENST00000674969.1:n.2875C>T | ||
| ENST00000675051.1:c.801C>T | ENSP00000502296.1:p.Ile267= | |
| ENST00000675529.1:c.*872C>T | ENSP00000501655.1:n.*872C>T | |
| ENST00000675587.1:n.1018C>T | ||
| ENST00000675651.1:c.1002C>T | ENSP00000502513.1:p.Ile334= | |
| ENST00000675693.1:c.834C>T | ENSP00000502174.1:p.Ile278= | |
| ENST00000675810.1:c.900C>T | ENSP00000502743.1:p.Ile300= | |
| ENST00000675859.1:c.1002C>T | ENSP00000502033.1:p.Ile334= | |
| ENST00000675863.1:n.1010C>T | ||
| ENST00000675886.1:n.7042C>T | ||
| ENST00000676088.1:c.*944C>T | ENSP00000501884.1:n.*944C>T | |
| ENST00000676140.1:c.1002C>T | ENSP00000502571.1:p.Ile334= | |
| ENST00000676164.1:c.*453C>T | ENSP00000501986.1:n.*453C>T | |
| ENST00000676210.1:c.*291C>T | ENSP00000502373.1:n.*291C>T | |
| ENST00000676259.1:c.*434C>T | ENSP00000501980.1:n.*434C>T | |
| ENST00000676403.1:c.1002C>T | ENSP00000502681.1:p.Ile334= | |
| ENST00000389266.7:c.1002C>T | ENSP00000373918.3:p.Ile334= | |
| ENST00000478124.5:n.1040C>T | ||
| NM_001316772.1:c.840C>T | NP_001303701.1:p.Ile280= | |
| NM_002047.2:c.1002C>T , LRG_243t1:c.1002C>T | NP_002038.2:p.Ile334= | |
| NM_002047.3:c.1002C>T | NP_002038.2:p.Ile334= | |
| XM_006715686.1:c.633C>T | XP_006715749.1:p.Ile211= | |
| XM_006715686.2:c.633C>T | XP_006715749.1:p.Ile211= | |
| NM_002047.4:c.1002C>T MANE Select | NP_002038.2:p.Ile334= |