Linked Data
ClinVar Variation Id:
450493
dbSNP Id:
rs201432170
ExAC:
7:30671082 G / A
gnomAD v2:
7-30671082-G-A
gnomAD v3:
7-30631466-G-A
gnomAD v4:
7-30631466-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30631466G>A , CM000669.2:g.30631466G>A | GRCh38 |
| NC_000007.13:g.30671082G>A , CM000669.1:g.30671082G>A | GRCh37 |
| NC_000007.12:g.30637607G>A | NCBI36 |
| NG_007942.1:g.41902G>A , LRG_243:g.41902G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389266.8:c.1828G>A MANE Select | ENSP00000373918.3:p.Val610Ile | |
| ENST00000444666.6:c.*249G>A | ENSP00000415447.2:n.*249G>A | |
| ENST00000465748.2:n.1309G>A | ||
| ENST00000470392.2:n.4696G>A | ||
| ENST00000485784.2:n.4685G>A | ||
| ENST00000496643.2:n.2923G>A | ||
| ENST00000674616.1:c.*1542G>A | ENSP00000502408.1:n.*1542G>A | |
| ENST00000674643.1:c.*928G>A | ENSP00000501636.1:n.*928G>A | |
| ENST00000674737.1:c.*1166G>A | ENSP00000502464.1:n.*1166G>A | |
| ENST00000674807.1:c.*101G>A | ENSP00000502814.1:n.*101G>A | |
| ENST00000674815.1:c.1459G>A | ENSP00000502799.1:p.Val487Ile | |
| ENST00000674851.1:c.1459G>A | ENSP00000502451.1:p.Val487Ile | |
| ENST00000674969.1:n.3701G>A | ||
| ENST00000675051.1:c.1627G>A | ENSP00000502296.1:p.Val543Ile | |
| ENST00000675529.1:c.*1698G>A | ENSP00000501655.1:n.*1698G>A | |
| ENST00000675587.1:n.2660G>A | ||
| ENST00000675651.1:c.1828G>A | ENSP00000502513.1:p.Val610Ile | |
| ENST00000675693.1:c.1660G>A | ENSP00000502174.1:p.Val554Ile | |
| ENST00000675810.1:c.1726G>A | ENSP00000502743.1:p.Val576Ile | |
| ENST00000675859.1:c.*83-781G>A | ENSP00000502033.1:n.*83-781G>A | |
| ENST00000675863.1:n.1836G>A | ||
| ENST00000675886.1:n.7868G>A | ||
| ENST00000676088.1:c.*1770G>A | ENSP00000501884.1:n.*1770G>A | |
| ENST00000676140.1:c.*773G>A | ENSP00000502571.1:n.*773G>A | |
| ENST00000676164.1:c.*1279G>A | ENSP00000501986.1:n.*1279G>A | |
| ENST00000676210.1:c.*1117G>A | ENSP00000502373.1:n.*1117G>A | |
| ENST00000676259.1:c.*1260G>A | ENSP00000501980.1:n.*1260G>A | |
| ENST00000676403.1:c.1810-781G>A | ENSP00000502681.1:n.1810-781G>A | |
| ENST00000389266.7:c.1828G>A | ENSP00000373918.3:p.Val610Ile | |
| ENST00000444666.5:c.483G>A | ENSP00000415447.1:n.483G>A | |
| ENST00000465748.1:n.199G>A | ||
| ENST00000485784.1:n.318G>A | ||
| NM_001316772.1:c.1666G>A | NP_001303701.1:p.Val556Ile | |
| NM_002047.2:c.1828G>A , LRG_243t1:c.1828G>A | NP_002038.2:p.Val610Ile | |
| NM_002047.3:c.1828G>A | NP_002038.2:p.Val610Ile | |
| XM_006715686.1:c.1459G>A | XP_006715749.1:p.Val487Ile | |
| XM_006715686.2:c.1459G>A | XP_006715749.1:p.Val487Ile | |
| NM_002047.4:c.1828G>A MANE Select | NP_002038.2:p.Val610Ile |