Linked Data
ClinVar Variation Id:
291849
ClinVar RCV Id:
RCV000283294
dbSNP Id:
rs182505461
gnomAD v2:
1-113456409-G-A
gnomAD v3:
1-112913787-G-A
gnomAD v4:
1-112913787-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.112913787G>A , CM000663.2:g.112913787G>A | GRCh38 |
| NC_000001.10:g.113456409G>A , CM000663.1:g.113456409G>A | GRCh37 |
| NC_000001.9:g.113257932G>A | NCBI36 |
| NG_015880.2:g.47142C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369626.8:c.*104C>T MANE Select | ENSP00000358640.4:n.*104C>T | |
| ENST00000429288.2:c.*104C>T | ENSP00000397106.2:n.*104C>T | |
| ENST00000443580.6:c.*104C>T | ENSP00000399104.2:n.*104C>T | |
| ENST00000458229.6:c.*104C>T | ENSP00000416167.2:n.*104C>T | |
| ENST00000679803.1:c.*104C>T | ENSP00000505879.1:n.*104C>T | |
| ENST00000369626.7:c.*104C>T | ENSP00000358640.3:n.*104C>T | |
| ENST00000538576.5:c.*104C>T | ENSP00000441065.1:n.*104C>T | |
| NM_001166496.1:c.*104C>T | NP_001159968.1:n.*104C>T | |
| NM_003051.3:c.*104C>T | NP_003042.3:n.*104C>T | |
| XM_011542026.1:c.*104C>T | XP_011540328.1:n.*104C>T | |
| XM_011542027.1:c.*104C>T | XP_011540329.1:n.*104C>T | |
| NM_003051.4:c.*104C>T MANE Select | NP_003042.3:n.*104C>T | |
| NM_001166496.2:c.*104C>T | NP_001159968.1:n.*104C>T |