Linked Data
ClinVar Variation Id:
285839
dbSNP Id:
rs886043231
gnomAD v2:
7-30649251-T-C
gnomAD v3:
7-30609635-T-C
gnomAD v4:
7-30609635-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30609635T>C , CM000669.2:g.30609635T>C | GRCh38 |
| NC_000007.13:g.30649251T>C , CM000669.1:g.30649251T>C | GRCh37 |
| NC_000007.12:g.30615776T>C | NCBI36 |
| NG_007942.1:g.20071T>C , LRG_243:g.20071T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389266.8:c.786T>C MANE Select | ENSP00000373918.3:p.Asn262= | |
| ENST00000444666.6:c.786T>C | ENSP00000415447.2:p.Asn262= | |
| ENST00000470392.2:n.876T>C | ||
| ENST00000478124.6:n.849T>C | ||
| ENST00000485784.2:n.865T>C | ||
| ENST00000674616.1:c.*500T>C | ENSP00000502408.1:n.*500T>C | |
| ENST00000674643.1:c.786T>C | ENSP00000501636.1:p.Asn262= | |
| ENST00000674734.1:n.1282T>C | ||
| ENST00000674737.1:c.*124T>C | ENSP00000502464.1:n.*124T>C | |
| ENST00000674807.1:c.786T>C | ENSP00000502814.1:p.Asn262= | |
| ENST00000674815.1:c.417T>C | ENSP00000502799.1:p.Asn139= | |
| ENST00000674851.1:c.417T>C | ENSP00000502451.1:p.Asn139= | |
| ENST00000674969.1:n.2659T>C | ||
| ENST00000675051.1:c.585T>C | ENSP00000502296.1:p.Asn195= | |
| ENST00000675529.1:c.*656T>C | ENSP00000501655.1:n.*656T>C | |
| ENST00000675587.1:n.802T>C | ||
| ENST00000675651.1:c.786T>C | ENSP00000502513.1:p.Asn262= | |
| ENST00000675693.1:c.618T>C | ENSP00000502174.1:p.Asn206= | |
| ENST00000675810.1:c.684T>C | ENSP00000502743.1:p.Asn228= | |
| ENST00000675859.1:c.786T>C | ENSP00000502033.1:p.Asn262= | |
| ENST00000675863.1:n.794T>C | ||
| ENST00000675886.1:n.6826T>C | ||
| ENST00000676088.1:c.*728T>C | ENSP00000501884.1:n.*728T>C | |
| ENST00000676140.1:c.786T>C | ENSP00000502571.1:p.Asn262= | |
| ENST00000676164.1:c.*237T>C | ENSP00000501986.1:n.*237T>C | |
| ENST00000676210.1:c.*75T>C | ENSP00000502373.1:n.*75T>C | |
| ENST00000676259.1:c.*218T>C | ENSP00000501980.1:n.*218T>C | |
| ENST00000676403.1:c.786T>C | ENSP00000502681.1:p.Asn262= | |
| ENST00000389266.7:c.786T>C | ENSP00000373918.3:p.Asn262= | |
| ENST00000478124.5:n.824T>C | ||
| NM_001316772.1:c.624T>C | NP_001303701.1:p.Asn208= | |
| NM_002047.2:c.786T>C , LRG_243t1:c.786T>C | NP_002038.2:p.Asn262= | |
| NM_002047.3:c.786T>C | NP_002038.2:p.Asn262= | |
| XM_006715686.1:c.417T>C | XP_006715749.1:p.Asn139= | |
| XM_006715686.2:c.417T>C | XP_006715749.1:p.Asn139= | |
| NM_002047.4:c.786T>C MANE Select | NP_002038.2:p.Asn262= |