Linked Data
ClinVar Variation Id:
1591499
ClinVar RCV Id:
RCV002107682
dbSNP Id:
rs192265662
ExAC:
1:7993322 C / T
gnomAD v2:
1-7993322-C-T
gnomAD v3:
1-7933262-C-T
gnomAD v4:
1-7933262-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.7933262C>T , CM000663.2:g.7933262C>T | GRCh38 |
| NC_000001.10:g.7993322C>T , CM000663.1:g.7993322C>T | GRCh37 |
| NC_000001.9:g.7915909C>T | NCBI36 |
| NG_052834.1:g.14904G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377507.8:c.579G>A MANE Select | ENSP00000366729.3:p.Ala193= | |
| ENST00000377507.7:c.579G>A | ENSP00000366729.3:p.Ala193= | |
| ENST00000474475.1:c.123G>A | ENSP00000465272.1:p.Ala41= | |
| ENST00000492571.1:c.449G>A | ENSP00000464978.1:n.449G>A | |
| ENST00000615230.4:c.579G>A | ENSP00000478699.1:p.Ala193= | |
| NM_001561.5:c.579G>A | NP_001552.2:p.Ala193= | |
| XM_006710618.2:c.579G>A | XP_006710681.1:p.Ala193= | |
| XM_011541386.1:c.579G>A | XP_011539688.1:p.Ala193= | |
| XM_006710618.3:c.579G>A | XP_006710681.1:p.Ala193= | |
| XM_011541386.2:c.579G>A | XP_011539688.1:p.Ala193= | |
| NM_001561.6:c.579G>A MANE Select | NP_001552.2:p.Ala193= |