Linked Data
ClinVar Variation Id:
229084
dbSNP Id:
rs876657936
gnomAD v2:
11-17580679-A-C
gnomAD v3:
11-17559132-A-C
gnomAD v4:
11-17559132-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17559132A>C , CM000673.2:g.17559132A>C | GRCh38 |
| NC_000011.9:g.17580679A>C , CM000673.1:g.17580679A>C | GRCh37 |
| NC_000011.8:g.17537255A>C | NCBI36 |
| NG_033191.1:g.16760A>C | |
| NG_033191.2:g.16760A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399391.7:c.1220A>C | ENSP00000382323.2:p.Gln407Pro | |
| ENST00000399397.6:c.1184A>C MANE Select | ENSP00000382329.2:p.Gln395Pro | |
| ENST00000399391.6:c.1220A>C | ENSP00000382323.2:p.Gln407Pro | |
| ENST00000399397.5:c.1184A>C | ENSP00000382329.2:p.Gln395Pro | |
| ENST00000498332.5:n.1090A>C | ||
| NM_001277269.1:c.1220A>C | NP_001264198.1:p.Gln407Pro | |
| NM_001292063.1:c.1184A>C | NP_001278992.1:p.Gln395Pro | |
| NM_001277269.2:c.1220A>C | NP_001264198.1:p.Gln407Pro | |
| NM_001292063.2:c.1184A>C MANE Select | NP_001278992.1:p.Gln395Pro |