Linked Data
ClinVar Variation Id:
1761026
ClinVar RCV Id:
RCV002412339
dbSNP Id:
rs769975164
ExAC:
1:15772240 A / C
gnomAD v2:
1-15772240-A-C
gnomAD v3:
1-15445745-A-C
gnomAD v4:
1-15445745-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445745A>C , CM000663.2:g.15445745A>C | GRCh38 |
| NC_000001.10:g.15772240A>C , CM000663.1:g.15772240A>C | GRCh37 |
| NC_000001.9:g.15644827A>C | NCBI36 |
| NG_009253.1:g.12303A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.788A>C MANE Select | ENSP00000365116.4:p.Asn263Thr | |
| ENST00000375943.6:c.*242A>C | ENSP00000365110.2:n.*242A>C | |
| ENST00000375949.4:c.788A>C | ENSP00000365116.4:p.Asn263Thr | |
| ENST00000483406.1:n.552A>C | ||
| NM_007272.2:c.788A>C | NP_009203.2:p.Asn263Thr | |
| XM_011540550.1:c.642A>C | XP_011538852.1:p.Gln214His | |
| NM_007272.3:c.788A>C MANE Select | NP_009203.2:p.Asn263Thr |