Linked Data
ClinVar Variation Id:
360018
dbSNP Id:
rs886062274
gnomAD v2:
7-30673467-C-T
gnomAD v3:
7-30633851-C-T
gnomAD v4:
7-30633851-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30633851C>T , CM000669.2:g.30633851C>T | GRCh38 |
| NC_000007.13:g.30673467C>T , CM000669.1:g.30673467C>T | GRCh37 |
| NC_000007.12:g.30639992C>T | NCBI36 |
| NG_007942.1:g.44287C>T , LRG_243:g.44287C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389266.8:c.2211C>T MANE Select | ENSP00000373918.3:p.Ile737= | |
| ENST00000444666.6:c.*632C>T | ENSP00000415447.2:n.*632C>T | |
| ENST00000465748.2:n.1692C>T | ||
| ENST00000470392.2:n.5784C>T | ||
| ENST00000485784.2:n.5068C>T | ||
| ENST00000496643.2:n.4011C>T | ||
| ENST00000674616.1:c.*1925C>T | ENSP00000502408.1:n.*1925C>T | |
| ENST00000674643.1:c.*2016C>T | ENSP00000501636.1:n.*2016C>T | |
| ENST00000674737.1:c.*1549C>T | ENSP00000502464.1:n.*1549C>T | |
| ENST00000674807.1:c.*484C>T | ENSP00000502814.1:n.*484C>T | |
| ENST00000674815.1:c.1842C>T | ENSP00000502799.1:p.Ile614= | |
| ENST00000674851.1:c.1842C>T | ENSP00000502451.1:p.Ile614= | |
| ENST00000674969.1:n.4084C>T | ||
| ENST00000675051.1:c.2010C>T | ENSP00000502296.1:p.Ile670= | |
| ENST00000675529.1:c.*2081C>T | ENSP00000501655.1:n.*2081C>T | |
| ENST00000675587.1:n.3043C>T | ||
| ENST00000675651.1:c.2229C>T | ENSP00000502513.1:p.Ile743= | |
| ENST00000675693.1:c.2043C>T | ENSP00000502174.1:p.Ile681= | |
| ENST00000675810.1:c.2109C>T | ENSP00000502743.1:p.Ile703= | |
| ENST00000675859.1:c.*390C>T | ENSP00000502033.1:n.*390C>T | |
| ENST00000675863.1:n.2924C>T | ||
| ENST00000675886.1:n.8251C>T | ||
| ENST00000676088.1:c.*2153C>T | ENSP00000501884.1:n.*2153C>T | |
| ENST00000676140.1:c.*1156C>T | ENSP00000502571.1:n.*1156C>T | |
| ENST00000676164.1:c.*1662C>T | ENSP00000501986.1:n.*1662C>T | |
| ENST00000676210.1:c.*1500C>T | ENSP00000502373.1:n.*1500C>T | |
| ENST00000676259.1:c.*1643C>T | ENSP00000501980.1:n.*1643C>T | |
| ENST00000676403.1:c.*296C>T | ENSP00000502681.1:n.*296C>T | |
| ENST00000389266.7:c.2211C>T | ENSP00000373918.3:p.Ile737= | |
| ENST00000485784.1:n.701C>T | ||
| ENST00000496643.1:n.590C>T | ||
| NM_001316772.1:c.2049C>T | NP_001303701.1:p.Ile683= | |
| NM_002047.2:c.2211C>T , LRG_243t1:c.2211C>T | NP_002038.2:p.Ile737= | |
| NM_002047.3:c.2211C>T | NP_002038.2:p.Ile737= | |
| XM_006715686.1:c.1842C>T | XP_006715749.1:p.Ile614= | |
| XM_006715686.2:c.1842C>T | XP_006715749.1:p.Ile614= | |
| NM_002047.4:c.2211C>T MANE Select | NP_002038.2:p.Ile737= |