Linked Data
ClinVar Variation Id:
307368
ClinVar RCV Id:
RCV000276151
dbSNP Id:
rs761242306
ExAC:
12:115112579 G / C
gnomAD v2:
12-115112579-G-C
gnomAD v3:
12-114674774-G-C
gnomAD v4:
12-114674774-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.114674774G>C , CM000674.2:g.114674774G>C | GRCh38 |
| NC_000012.11:g.115112579G>C , CM000674.1:g.115112579G>C | GRCh37 |
| NC_000012.10:g.113596962G>C | NCBI36 |
| NG_008315.1:g.14391C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000349155.7:c.1101C>G MANE Select | ENSP00000257567.2:p.Pro367= | |
| ENST00000257566.7:c.1161C>G | ENSP00000257566.3:p.Pro387= | |
| ENST00000349155.6:c.1101C>G | ENSP00000257567.2:p.Pro367= | |
| ENST00000613550.1:c.1101C>G | ENSP00000480048.1:p.Pro367= | |
| NM_005996.3:c.1101C>G | NP_005987.3:p.Pro367= | |
| NM_016569.3:c.1161C>G | NP_057653.3:p.Pro387= | |
| NM_005996.4:c.1101C>G MANE Select | NP_005987.3:p.Pro367= | |
| NM_016569.4:c.1161C>G | NP_057653.3:p.Pro387= |