Linked Data
ClinVar Variation Id:
413335
dbSNP Id:
rs1060503994
gnomAD v2:
7-150671869-G-C
gnomAD v4:
7-150974781-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150974781G>C , CM000669.2:g.150974781G>C | GRCh38 |
| NC_000007.13:g.150671869G>C , CM000669.1:g.150671869G>C | GRCh37 |
| NC_000007.12:g.150302802G>C | NCBI36 |
| NG_008916.1:g.8146C>G , LRG_288:g.8146C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262186.10:c.237C>G MANE Select | ENSP00000262186.5:p.Ala79= | |
| ENST00000262186.9:c.237C>G | ENSP00000262186.5:p.Ala79= | |
| ENST00000430723.4:c.60C>G | ENSP00000387657.4:p.Ala20= | |
| ENST00000532957.5:n.460C>G | ||
| NM_000238.3:c.237C>G , LRG_288t1:c.237C>G | NP_000229.1:p.Ala79= | |
| NM_172056.2:c.237C>G , LRG_288t2:c.237C>G | NP_742053.1:p.Ala79= | |
| XM_011516186.1:c.237C>G | XP_011514488.1:p.Ala79= | |
| XM_011516186.3:c.237C>G | XP_011514488.1:p.Ala79= | |
| XM_017012196.1:c.60C>G | XP_016867685.1:p.Ala20= | |
| NM_000238.4:c.237C>G MANE Select | NP_000229.1:p.Ala79= |