Linked Data
ClinVar Variation Id:
1783452
ClinVar RCV Id:
RCV002421761
dbSNP Id:
rs769113950
gnomAD v2:
13-49033824-T-G
gnomAD v4:
13-48459688-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48459688T>G , CM000675.2:g.48459688T>G | GRCh38 |
| NC_000013.10:g.49033824T>G , CM000675.1:g.49033824T>G | GRCh37 |
| NC_000013.9:g.47931825T>G | NCBI36 |
| NG_009009.1:g.160942T>G , LRG_517:g.160942T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000267163.6:c.1961T>G MANE Select | ENSP00000267163.4:p.Val654Gly | |
| ENST00000643064.1:c.194+78245T>G | ||
| ENST00000650461.1:c.1961T>G | ENSP00000497193.1:p.Val654Gly | |
| ENST00000267163.4:c.1961T>G | ENSP00000267163.4:p.Val654Gly | |
| NM_000321.2:c.1961T>G , LRG_517t1:c.1961T>G | NP_000312.2:p.Val654Gly | |
| XM_011535171.1:c.1700T>G | XP_011533473.1:p.Val567Gly | |
| XM_011535171.2:c.1700T>G | XP_011533473.1:p.Val567Gly | |
| NM_000321.3:c.1961T>G MANE Select | NP_000312.2:p.Val654Gly |