Linked Data
ClinVar Variation Id:
1232721
ClinVar RCV Id:
RCV001621069
dbSNP Id:
rs13153937
gnomAD v2:
5-110434307-G-A
gnomAD v3:
5-111098609-G-A
gnomAD v4:
5-111098609-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.111098609G>A , CM000667.2:g.111098609G>A | GRCh38 |
| NC_000005.9:g.110434307G>A , CM000667.1:g.110434307G>A | GRCh37 |
| NC_000005.8:g.110462206G>A | NCBI36 |
| NG_008979.1:g.11438G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000513710.4:c.292-113G>A MANE Select | ENSP00000424628.3:n.292-113G>A | |
| ENST00000504122.2:n.174-113G>A | ||
| ENST00000505303.5:n.428-113G>A | ||
| ENST00000506538.6:c.460-113G>A | ENSP00000423067.2:n.460-113G>A | |
| ENST00000513710.3:c.292-113G>A | ENSP00000424628.3:n.292-113G>A | |
| ENST00000612402.4:c.460-113G>A | ENSP00000479950.1:n.460-113G>A | |
| NM_139281.2:c.460-113G>A | NP_644810.1:n.460-113G>A | |
| XM_011543163.1:c.460-113G>A | XP_011541465.1:n.460-113G>A | |
| NM_139281.3:c.292-113G>A MANE Select | NP_644810.2:n.292-113G>A |