Linked Data
ClinVar Variation Id:
2726286
ClinVar RCV Id:
RCV003531406
dbSNP Id:
rs1802017721
gnomAD v4:
7-150977893-G-A
MyVariant Identifiers:
chr7:g.150674981G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150977893G>A , CM000669.2:g.150977893G>A | GRCh38 |
| NC_000007.13:g.150674981G>A , CM000669.1:g.150674981G>A | GRCh37 |
| NC_000007.12:g.150305914G>A | NCBI36 |
| NG_008916.1:g.5034C>T , LRG_288:g.5034C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262186.10:c.21C>T MANE Select | ENSP00000262186.5:p.His7= | |
| ENST00000262186.9:c.21C>T | ENSP00000262186.5:p.His7= | |
| ENST00000430723.4:c.-157C>T | ENSP00000387657.4:n.-157C>T | |
| ENST00000532957.5:n.244C>T | ||
| NM_000238.3:c.21C>T , LRG_288t1:c.21C>T | NP_000229.1:p.His7= | |
| NM_172056.2:c.21C>T , LRG_288t2:c.21C>T | NP_742053.1:p.His7= | |
| XM_011516186.1:c.21C>T | XP_011514488.1:p.His7= | |
| XM_011516186.3:c.21C>T | XP_011514488.1:p.His7= | |
| NM_000238.4:c.21C>T MANE Select | NP_000229.1:p.His7= |