Linked Data
ClinVar Variation Id:
1021205
ClinVar RCV Id:
RCV001320923
dbSNP Id:
rs1257667947
gnomAD v4:
4-186196025-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186196025A>C , CM000666.2:g.186196025A>C | GRCh38 |
| NC_000004.11:g.187117179A>C , CM000666.1:g.187117179A>C | GRCh37 |
| NC_000004.10:g.187354173A>C | NCBI36 |
| NG_007965.1:g.9506A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.350A>C MANE Select | ENSP00000368079.4:p.Gln117Pro | |
| ENST00000378802.4:c.350A>C | ENSP00000368079.4:p.Gln117Pro | |
| NM_207352.3:c.350A>C | NP_997235.3:p.Gln117Pro | |
| XM_005262935.2:c.350A>C | XP_005262992.1:p.Gln117Pro | |
| XM_006714184.2:c.18-915A>C | XP_006714247.1:n.18-915A>C | |
| XM_005262935.4:c.350A>C | XP_005262992.1:p.Gln117Pro | |
| XM_017008037.1:c.18-915A>C | XP_016863526.1:n.18-915A>C | |
| NM_207352.4:c.350A>C MANE Select | NP_997235.3:p.Gln117Pro |