Linked Data
ClinVar Variation Id:
374608
ClinVar RCV Id:
RCV000415949
dbSNP Id:
rs1057519169
gnomAD v2:
12-56490631-G-A
gnomAD v3:
12-56096847-G-A
gnomAD v4:
12-56096847-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56096847G>A , CM000674.2:g.56096847G>A | GRCh38 |
| NC_000012.11:g.56490631G>A , CM000674.1:g.56490631G>A | GRCh37 |
| NC_000012.10:g.54776898G>A | NCBI36 |
| NG_011529.1:g.21740G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682431.1:n.3760+1G>A | ||
| ENST00000683018.1:c.2097+1G>A | ENSP00000506822.1:n.2097+1G>A | |
| ENST00000683059.1:c.2097+1G>A | ENSP00000507402.1:n.2097+1G>A | |
| ENST00000683164.1:c.2097+1G>A | ENSP00000508051.1:n.2097+1G>A | |
| ENST00000683653.1:n.3007+1G>A | ||
| ENST00000684500.1:n.3315+1G>A | ||
| ENST00000684766.1:n.517+1G>A | ||
| ENST00000267101.8:c.2274+1G>A MANE Select | ENSP00000267101.4:n.2274+1G>A | |
| ENST00000267101.7:c.2274+1G>A | ENSP00000267101.3:n.2274+1G>A | |
| ENST00000415288.6:c.2097+1G>A | ENSP00000408340.2:n.2097+1G>A | |
| ENST00000550070.6:c.537+315G>A | ENSP00000448946.2:n.537+315G>A | |
| ENST00000551085.5:c.2274+1G>A | ENSP00000448483.1:n.2274+1G>A | |
| ENST00000551242.5:c.989-3335G>A | ENSP00000447510.1:n.989-3335G>A | |
| ENST00000553131.5:c.-4+1G>A | ENSP00000449129.1:n.-4+1G>A | |
| NM_001982.3:c.2274+1G>A | NP_001973.2:n.2274+1G>A | |
| NM_001982.4:c.2274+1G>A MANE Select | NP_001973.2:n.2274+1G>A |