Linked Data
ClinVar Variation Id:
1547093
ClinVar RCV Id:
RCV002173280
dbSNP Id:
rs1171635215
gnomAD v2:
1-2337980-G-T
gnomAD v3:
1-2406541-G-T
gnomAD v4:
1-2406541-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2406541G>T , CM000663.2:g.2406541G>T | GRCh38 |
| NC_000001.10:g.2337980G>T , CM000663.1:g.2337980G>T | GRCh37 |
| NC_000001.9:g.2327840G>T | NCBI36 |
| NG_008342.1:g.11031C>A | |
| NG_016128.1:g.19767G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288774.8:c.915C>A | ENSP00000288774.3:p.Ala305= | |
| ENST00000447513.7:c.855C>A MANE Select | ENSP00000407922.2:p.Ala285= | |
| ENST00000650293.1:c.809C>A | ||
| ENST00000288774.7:c.915C>A | ENSP00000288774.3:p.Ala305= | |
| ENST00000447513.6:c.855C>A | ENSP00000407922.2:p.Ala285= | |
| ENST00000507596.5:c.855C>A | ENSP00000424291.1:p.Ala285= | |
| ENST00000510434.1:c.*221C>A | ENSP00000423051.1:n.*221C>A | |
| NM_002617.3:c.855C>A | NP_002608.1:p.Ala285= | |
| NM_153818.1:c.915C>A | NP_722540.1:p.Ala305= | |
| XM_011541573.1:c.912C>A | XP_011539875.1:p.Ala304= | |
| XM_011541574.1:c.480C>A | XP_011539876.1:p.Ala160= | |
| XM_011541575.1:c.480C>A | XP_011539877.1:p.Ala160= | |
| XR_946666.1:n.971C>A | ||
| XR_946666.2:n.920C>A | ||
| NM_001374425.1:c.912C>A | NP_001361354.1:p.Ala304= | |
| NM_001374426.1:c.480C>A | NP_001361355.1:p.Ala160= | |
| NM_001374427.1:c.423C>A | NP_001361356.1:p.Ala141= | |
| NM_002617.4:c.855C>A MANE Select | NP_002608.1:p.Ala285= | |
| NM_153818.2:c.915C>A | NP_722540.1:p.Ala305= | |
| NR_164636.1:n.970C>A |