Linked Data
ClinVar Variation Id:
209157
dbSNP Id:
rs201358272
ExAC:
7:30671863 C / T
gnomAD v2:
7-30671863-C-T
gnomAD v3:
7-30632247-C-T
gnomAD v4:
7-30632247-C-T
COSMIC:
COSM1089085
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30632247C>T , CM000669.2:g.30632247C>T | GRCh38 |
| NC_000007.13:g.30671863C>T , CM000669.1:g.30671863C>T | GRCh37 |
| NC_000007.12:g.30638388C>T | NCBI36 |
| NG_007942.1:g.42683C>T , LRG_243:g.42683C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389266.8:c.1904C>T MANE Select | ENSP00000373918.3:p.Ser635Leu | |
| ENST00000444666.6:c.*325C>T | ENSP00000415447.2:n.*325C>T | |
| ENST00000465748.2:n.1385C>T | ||
| ENST00000470392.2:n.5477C>T | ||
| ENST00000485784.2:n.4761C>T | ||
| ENST00000496643.2:n.3704C>T | ||
| ENST00000674616.1:c.*1618C>T | ENSP00000502408.1:n.*1618C>T | |
| ENST00000674643.1:c.*1709C>T | ENSP00000501636.1:n.*1709C>T | |
| ENST00000674737.1:c.*1242C>T | ENSP00000502464.1:n.*1242C>T | |
| ENST00000674807.1:c.*177C>T | ENSP00000502814.1:n.*177C>T | |
| ENST00000674815.1:c.1535C>T | ENSP00000502799.1:p.Ser512Leu | |
| ENST00000674851.1:c.1535C>T | ENSP00000502451.1:p.Ser512Leu | |
| ENST00000674969.1:n.3777C>T | ||
| ENST00000675051.1:c.1703C>T | ENSP00000502296.1:p.Ser568Leu | |
| ENST00000675529.1:c.*1774C>T | ENSP00000501655.1:n.*1774C>T | |
| ENST00000675587.1:n.2736C>T | ||
| ENST00000675651.1:c.1922C>T | ENSP00000502513.1:p.Ala641Val | |
| ENST00000675693.1:c.1736C>T | ENSP00000502174.1:p.Ser579Leu | |
| ENST00000675810.1:c.1802C>T | ENSP00000502743.1:p.Ser601Leu | |
| ENST00000675859.1:c.*83C>T | ENSP00000502033.1:n.*83C>T | |
| ENST00000675863.1:n.2617C>T | ||
| ENST00000675886.1:n.7944C>T | ||
| ENST00000676088.1:c.*1846C>T | ENSP00000501884.1:n.*1846C>T | |
| ENST00000676140.1:c.*849C>T | ENSP00000502571.1:n.*849C>T | |
| ENST00000676164.1:c.*1355C>T | ENSP00000501986.1:n.*1355C>T | |
| ENST00000676210.1:c.*1193C>T | ENSP00000502373.1:n.*1193C>T | |
| ENST00000676259.1:c.*1336C>T | ENSP00000501980.1:n.*1336C>T | |
| ENST00000676403.1:c.1810C>T | ENSP00000502681.1:p.Arg604Trp | |
| ENST00000389266.7:c.1904C>T | ENSP00000373918.3:p.Ser635Leu | |
| ENST00000444666.5:c.559C>T | ENSP00000415447.1:n.559C>T | |
| ENST00000465748.1:n.275C>T | ||
| ENST00000485784.1:n.394C>T | ||
| ENST00000496643.1:n.283C>T | ||
| NM_001316772.1:c.1742C>T | NP_001303701.1:p.Ser581Leu | |
| NM_002047.2:c.1904C>T , LRG_243t1:c.1904C>T | NP_002038.2:p.Ser635Leu | |
| NM_002047.3:c.1904C>T | NP_002038.2:p.Ser635Leu | |
| XM_006715686.1:c.1535C>T | XP_006715749.1:p.Ser512Leu | |
| XM_006715686.2:c.1535C>T | XP_006715749.1:p.Ser512Leu | |
| NM_002047.4:c.1904C>T MANE Select | NP_002038.2:p.Ser635Leu |