Linked Data
ClinVar Variation Id:
2395
ClinVar RCV Id:
RCV000002496
dbSNP Id:
rs587776539
ExAC:
6:131894480 G / A
gnomAD v2:
6-131894480-G-A
gnomAD v3:
6-131573340-G-A
gnomAD v4:
6-131573340-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131573340G>A , CM000668.2:g.131573340G>A | GRCh38 |
| NC_000006.11:g.131894480G>A , CM000668.1:g.131894480G>A | GRCh37 |
| NC_000006.10:g.131936173G>A | NCBI36 |
| NG_007086.2:g.5116G>A | |
| NG_031860.1:g.59884C>T | |
| NG_031860.2:g.59884C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368087.8:c.57+1G>A MANE Select | ENSP00000357066.3:n.57+1G>A | |
| ENST00000640973.1:c.57+1G>A | ENSP00000492623.1:n.57+1G>A | |
| ENST00000672052.1:n.305-3323G>A | ||
| ENST00000672233.1:c.77-5771G>A | ENSP00000499826.1:n.77-5771G>A | |
| ENST00000673234.1:c.77-3323G>A | ENSP00000499885.1:n.77-3323G>A | |
| ENST00000673427.1:c.57+1G>A | ENSP00000500160.1:n.57+1G>A | |
| ENST00000275196.5:n.114+1G>A | ||
| ENST00000356962.2:c.57+1G>A | ENSP00000349446.2:n.57+1G>A | |
| ENST00000368087.7:c.57+1G>A | ENSP00000357066.3:n.57+1G>A | |
| ENST00000469293.1:n.146+1G>A | ||
| ENST00000498260.1:n.98+1G>A | ||
| NM_000045.3:c.57+1G>A | NP_000036.2:n.57+1G>A | |
| NM_001244438.1:c.57+1G>A | NP_001231367.1:n.57+1G>A | |
| XM_011535801.1:c.57+1G>A | XP_011534103.1:n.57+1G>A | |
| XM_011535801.2:c.57+1G>A | XP_011534103.1:n.57+1G>A | |
| NM_000045.4:c.57+1G>A MANE Select | NP_000036.2:n.57+1G>A | |
| NM_001244438.2:c.57+1G>A | NP_001231367.1:n.57+1G>A | |
| NM_001369020.1:c.57+1G>A | NP_001355949.1:n.57+1G>A | |
| NR_160934.1:n.114+1G>A |