Linked Data
dbSNP Id:
rs1652722253
gnomAD v3:
1-119753299-T-C
gnomAD v4:
1-119753299-T-C
MyVariant Identifiers:
chr1:g.120295922T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119753299T>C , CM000663.2:g.119753299T>C | GRCh38 |
| NC_000001.10:g.120295922T>C , CM000663.1:g.120295922T>C | GRCh37 |
| NC_000001.9:g.120097445T>C | NCBI36 |
| NG_013348.1:g.20634A>G , LRG_447:g.20634A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369406.8:c.1275A>G MANE Select | ENSP00000358414.3:p.Val425= | |
| ENST00000369406.7:c.1275A>G | ENSP00000358414.3:p.Val425= | |
| ENST00000544913.2:c.1149A>G | ENSP00000439495.2:p.Val383= | |
| NM_001166107.1:c.1149A>G , LRG_447t2:c.1149A>G | NP_001159579.1:p.Val383= | |
| NM_005518.3:c.1275A>G , LRG_447t1:c.1275A>G | NP_005509.1:p.Val425= | |
| XM_011541313.1:c.1110A>G | XP_011539615.1:p.Val370= | |
| XM_011541313.2:c.1110A>G | XP_011539615.1:p.Val370= | |
| NM_005518.4:c.1275A>G MANE Select | NP_005509.1:p.Val425= |