Linked Data
ClinVar Variation Id:
258538
dbSNP Id:
rs7808770
ExAC:
7:30649212 T / C
gnomAD v2:
7-30649212-T-C
gnomAD v3:
7-30609596-T-C
gnomAD v4:
7-30609596-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30609596T>C , CM000669.2:g.30609596T>C | GRCh38 |
| NC_000007.13:g.30649212T>C , CM000669.1:g.30649212T>C | GRCh37 |
| NC_000007.12:g.30615737T>C | NCBI36 |
| NG_007942.1:g.20032T>C , LRG_243:g.20032T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000389266.8:c.747T>C MANE Select | ENSP00000373918.3:p.Tyr249= | |
| ENST00000444666.6:c.747T>C | ENSP00000415447.2:p.Tyr249= | |
| ENST00000470392.2:n.837T>C | ||
| ENST00000478124.6:n.810T>C | ||
| ENST00000485784.2:n.826T>C | ||
| ENST00000674616.1:c.*461T>C | ENSP00000502408.1:n.*461T>C | |
| ENST00000674643.1:c.747T>C | ENSP00000501636.1:p.Tyr249= | |
| ENST00000674734.1:n.1243T>C | ||
| ENST00000674737.1:c.*85T>C | ENSP00000502464.1:n.*85T>C | |
| ENST00000674807.1:c.747T>C | ENSP00000502814.1:p.Tyr249= | |
| ENST00000674815.1:c.378T>C | ENSP00000502799.1:p.Tyr126= | |
| ENST00000674851.1:c.378T>C | ENSP00000502451.1:p.Tyr126= | |
| ENST00000674969.1:n.2620T>C | ||
| ENST00000675051.1:c.546T>C | ENSP00000502296.1:p.Tyr182= | |
| ENST00000675529.1:c.*617T>C | ENSP00000501655.1:n.*617T>C | |
| ENST00000675587.1:n.763T>C | ||
| ENST00000675651.1:c.747T>C | ENSP00000502513.1:p.Tyr249= | |
| ENST00000675693.1:c.579T>C | ENSP00000502174.1:p.Tyr193= | |
| ENST00000675810.1:c.645T>C | ENSP00000502743.1:p.Tyr215= | |
| ENST00000675859.1:c.747T>C | ENSP00000502033.1:p.Tyr249= | |
| ENST00000675863.1:n.755T>C | ||
| ENST00000675886.1:n.6787T>C | ||
| ENST00000676088.1:c.*689T>C | ENSP00000501884.1:n.*689T>C | |
| ENST00000676140.1:c.747T>C | ENSP00000502571.1:p.Tyr249= | |
| ENST00000676164.1:c.*198T>C | ENSP00000501986.1:n.*198T>C | |
| ENST00000676210.1:c.*36T>C | ENSP00000502373.1:n.*36T>C | |
| ENST00000676259.1:c.*179T>C | ENSP00000501980.1:n.*179T>C | |
| ENST00000676403.1:c.747T>C | ENSP00000502681.1:p.Tyr249= | |
| ENST00000389266.7:c.747T>C | ENSP00000373918.3:p.Tyr249= | |
| ENST00000478124.5:n.785T>C | ||
| NM_001316772.1:c.585T>C | NP_001303701.1:p.Tyr195= | |
| NM_002047.2:c.747T>C , LRG_243t1:c.747T>C | NP_002038.2:p.Tyr249= | |
| NM_002047.3:c.747T>C | NP_002038.2:p.Tyr249= | |
| XM_006715686.1:c.378T>C | XP_006715749.1:p.Tyr126= | |
| XM_006715686.2:c.378T>C | XP_006715749.1:p.Tyr126= | |
| NM_002047.4:c.747T>C MANE Select | NP_002038.2:p.Tyr249= |