Linked Data
ClinVar Variation Id:
3072504
ClinVar RCV Id:
RCV004013526
dbSNP Id:
rs1430857007
gnomAD v3:
7-150974741-T-G
gnomAD v4:
7-150974741-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150974741T>G , CM000669.2:g.150974741T>G | GRCh38 |
| NC_000007.13:g.150671829T>G , CM000669.1:g.150671829T>G | GRCh37 |
| NC_000007.12:g.150302762T>G | NCBI36 |
| NG_008916.1:g.8186A>C , LRG_288:g.8186A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262186.10:c.277A>C MANE Select | ENSP00000262186.5:p.Lys93Gln | |
| ENST00000262186.9:c.277A>C | ENSP00000262186.5:p.Lys93Gln | |
| ENST00000430723.4:c.100A>C | ENSP00000387657.4:p.Lys34Gln | |
| ENST00000532957.5:n.500A>C | ||
| NM_000238.3:c.277A>C , LRG_288t1:c.277A>C | NP_000229.1:p.Lys93Gln | |
| NM_172056.2:c.277A>C , LRG_288t2:c.277A>C | NP_742053.1:p.Lys93Gln | |
| XM_011516186.1:c.277A>C | XP_011514488.1:p.Lys93Gln | |
| XM_011516186.3:c.277A>C | XP_011514488.1:p.Lys93Gln | |
| XM_017012196.1:c.100A>C | XP_016867685.1:p.Lys34Gln | |
| NM_000238.4:c.277A>C MANE Select | NP_000229.1:p.Lys93Gln |