Linked Data
ClinVar Variation Id:
1680884
ClinVar RCV Id:
RCV002238416
dbSNP Id:
rs1008199275
gnomAD v3:
7-30595129-G-C
gnomAD v4:
7-30595129-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30595129G>C , CM000669.2:g.30595129G>C | GRCh38 |
| NC_000007.13:g.30634745G>C , CM000669.1:g.30634745G>C | GRCh37 |
| NC_000007.12:g.30601270G>C | NCBI36 |
| NG_007942.1:g.5565G>C , LRG_243:g.5565G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389266.8:c.208G>C MANE Select | ENSP00000373918.3:p.Ala70Pro | |
| ENST00000444666.6:c.208G>C | ENSP00000415447.2:p.Ala70Pro | |
| ENST00000454308.6:c.208G>C | ENSP00000392677.2:p.Ala70Pro | |
| ENST00000470392.2:n.298G>C | ||
| ENST00000478124.6:n.271G>C | ||
| ENST00000485784.2:n.287G>C | ||
| ENST00000674616.1:c.208G>C | ENSP00000502408.1:p.Ala70Pro | |
| ENST00000674643.1:c.208G>C | ENSP00000501636.1:p.Ala70Pro | |
| ENST00000674737.1:c.208G>C | ENSP00000502464.1:p.Ala70Pro | |
| ENST00000674807.1:c.208G>C | ENSP00000502814.1:p.Ala70Pro | |
| ENST00000674815.1:c.-148+177G>C | ENSP00000502799.1:n.-148+177G>C | |
| ENST00000674851.1:c.-162G>C | ENSP00000502451.1:n.-162G>C | |
| ENST00000674969.1:n.248G>C | ||
| ENST00000675051.1:c.22-3667G>C | ENSP00000502296.1:n.22-3667G>C | |
| ENST00000675529.1:c.208G>C | ENSP00000501655.1:p.Ala70Pro | |
| ENST00000675587.1:n.224G>C | ||
| ENST00000675651.1:c.208G>C | ENSP00000502513.1:p.Ala70Pro | |
| ENST00000675693.1:c.40G>C | ENSP00000502174.1:p.Ala14Pro | |
| ENST00000675810.1:c.208G>C | ENSP00000502743.1:p.Ala70Pro | |
| ENST00000675859.1:c.208G>C | ENSP00000502033.1:p.Ala70Pro | |
| ENST00000675863.1:n.216G>C | ||
| ENST00000675886.1:n.236G>C | ||
| ENST00000676088.1:c.208G>C | ENSP00000501884.1:p.Ala70Pro | |
| ENST00000676140.1:c.208G>C | ENSP00000502571.1:p.Ala70Pro | |
| ENST00000676164.1:c.208G>C | ENSP00000501986.1:p.Ala70Pro | |
| ENST00000676210.1:c.208G>C | ENSP00000502373.1:p.Ala70Pro | |
| ENST00000676259.1:c.208G>C | ENSP00000501980.1:p.Ala70Pro | |
| ENST00000676403.1:c.208G>C | ENSP00000502681.1:p.Ala70Pro | |
| ENST00000389266.7:c.208G>C | ENSP00000373918.3:p.Ala70Pro | |
| ENST00000454308.5:c.208G>C | ENSP00000392677.1:p.Ala70Pro | |
| ENST00000478124.5:n.246G>C | ||
| ENST00000627489.1:c.208G>C | ENSP00000485931.1:p.Ala70Pro | |
| NM_001316772.1:c.46G>C | NP_001303701.1:p.Ala16Pro | |
| NM_002047.2:c.208G>C , LRG_243t1:c.208G>C | NP_002038.2:p.Ala70Pro | |
| NM_002047.3:c.208G>C | NP_002038.2:p.Ala70Pro | |
| XM_006715686.2:c.-272G>C | XP_006715749.1:n.-272G>C | |
| NM_002047.4:c.208G>C MANE Select | NP_002038.2:p.Ala70Pro |