Linked Data
ClinVar Variation Id:
67507
ClinVar RCV Id:
RCV000058236
dbSNP Id:
rs199472825
gnomAD v2:
7-150674955-T-G
gnomAD v4:
7-150977867-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150977867T>G , CM000669.2:g.150977867T>G | GRCh38 |
| NC_000007.13:g.150674955T>G , CM000669.1:g.150674955T>G | GRCh37 |
| NC_000007.12:g.150305888T>G | NCBI36 |
| NG_008916.1:g.5060A>C , LRG_288:g.5060A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262186.10:c.47A>C MANE Select | ENSP00000262186.5:p.Asp16Ala | |
| ENST00000262186.9:c.47A>C | ENSP00000262186.5:p.Asp16Ala | |
| ENST00000430723.4:c.-131A>C | ENSP00000387657.4:n.-131A>C | |
| ENST00000532957.5:n.270A>C | ||
| NM_000238.3:c.47A>C , LRG_288t1:c.47A>C | NP_000229.1:p.Asp16Ala | |
| NM_172056.2:c.47A>C , LRG_288t2:c.47A>C | NP_742053.1:p.Asp16Ala | |
| XM_011516186.1:c.47A>C | XP_011514488.1:p.Asp16Ala | |
| XM_011516186.3:c.47A>C | XP_011514488.1:p.Asp16Ala | |
| NM_000238.4:c.47A>C MANE Select | NP_000229.1:p.Asp16Ala |