Linked Data
ClinVar Variation Id:
1487247
ClinVar RCV Id:
RCV002006317
dbSNP Id:
rs746414248
ExAC:
8:55540455 T / G
gnomAD v2:
8-55540455-T-G
gnomAD v4:
8-54627895-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.54627895T>G , CM000670.2:g.54627895T>G | GRCh38 |
| NC_000008.10:g.55540455T>G , CM000670.1:g.55540455T>G | GRCh37 |
| NC_000008.9:g.55703008T>G | NCBI36 |
| NG_009840.1:g.16829T>G | |
| NG_009840.2:g.16829T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220676.2:c.4013T>G MANE Select | ENSP00000220676.1:p.Val1338Gly | |
| ENST00000636932.1:c.787+5607T>G | ENSP00000489857.1:n.787+5607T>G | |
| ENST00000637698.1:c.787+5607T>G | ENSP00000490104.1:n.787+5607T>G | |
| ENST00000220676.1:c.4013T>G | ENSP00000220676.1:p.Val1338Gly | |
| NM_006269.1:c.4013T>G | NP_006260.1:p.Val1338Gly | |
| XM_017013721.1:c.4034T>G | XP_016869210.1:p.Val1345Gly | |
| XM_017013722.1:c.4013T>G | XP_016869211.1:p.Val1338Gly | |
| NM_001375654.1:c.787+5607T>G | NP_001362583.1:n.787+5607T>G | |
| NM_006269.2:c.4013T>G MANE Select | NP_006260.1:p.Val1338Gly |