Linked Data
ClinVar Variation Id:
1168231
ClinVar RCV Id:
RCV001518321
dbSNP Id:
rs117039649
gnomAD v2:
12-69202556-G-C
gnomAD v3:
12-68808776-G-C
gnomAD v4:
12-68808776-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.68808776G>C , CM000674.2:g.68808776G>C | GRCh38 |
| NC_000012.11:g.69202556G>C , CM000674.1:g.69202556G>C | GRCh37 |
| NC_000012.10:g.67488823G>C | NCBI36 |
| NG_016708.1:g.5586G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258149.11:c.14+285G>C MANE Select | ENSP00000258149.6:n.14+285G>C | |
| ENST00000258149.10:c.14+285G>C | ENSP00000258149.6:n.14+285G>C | |
| ENST00000393417.8:c.14+285G>C | ENSP00000429021.3:n.14+285G>C | |
| ENST00000258148.11:c.14+285G>C | ENSP00000258148.7:n.14+285G>C | |
| ENST00000258149.9:c.14+285G>C | ENSP00000258149.6:n.14+285G>C | |
| ENST00000311420.13:c.14+285G>C | ENSP00000310742.9:n.14+285G>C | |
| ENST00000393412.7:c.-5+285G>C | ENSP00000377064.4:n.-5+285G>C | |
| ENST00000393417.7:c.-5+285G>C | ENSP00000429021.2:n.-5+285G>C | |
| ENST00000428863.6:c.-5+285G>C | ENSP00000410694.3:n.-5+285G>C | |
| ENST00000462284.5:c.-5+285G>C | ENSP00000417281.2:n.-5+285G>C | |
| ENST00000493419.1:n.210+285G>C | ||
| NM_001145339.2:c.14+285G>C | NP_001138811.1:n.14+285G>C | |
| NM_002392.5:c.14+285G>C | NP_002383.2:n.14+285G>C | |
| XM_006719400.2:c.-174+285G>C | XP_006719463.1:n.-174+285G>C | |
| XM_005268872.5:c.-315G>C | XP_005268929.1:n.-315G>C | |
| XM_006719400.4:c.-174+285G>C | XP_006719463.1:n.-174+285G>C | |
| NM_002392.6:c.14+285G>C MANE Select | NP_002383.2:n.14+285G>C |