Linked Data
ClinVar Variation Id:
307354
dbSNP Id:
rs139599654
ExAC:
12:115109814 C / T
gnomAD v2:
12-115109814-C-T
gnomAD v3:
12-114672009-C-T
gnomAD v4:
12-114672009-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.114672009C>T , CM000674.2:g.114672009C>T | GRCh38 |
| NC_000012.11:g.115109814C>T , CM000674.1:g.115109814C>T | GRCh37 |
| NC_000012.10:g.113594197C>T | NCBI36 |
| NG_008315.1:g.17156G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349155.7:c.2004G>A MANE Select | ENSP00000257567.2:p.Ser668= | |
| ENST00000257566.7:c.2064G>A | ENSP00000257566.3:p.Ser688= | |
| ENST00000349155.6:c.2004G>A | ENSP00000257567.2:p.Ser668= | |
| ENST00000613550.1:c.2001G>A | ENSP00000480048.1:p.Ser667= | |
| NM_005996.3:c.2004G>A | NP_005987.3:p.Ser668= | |
| NM_016569.3:c.2064G>A | NP_057653.3:p.Ser688= | |
| NM_005996.4:c.2004G>A MANE Select | NP_005987.3:p.Ser668= | |
| NM_016569.4:c.2064G>A | NP_057653.3:p.Ser688= |