Linked Data
ClinVar Variation Id:
294355
ClinVar RCV Id:
RCV000337938
dbSNP Id:
rs553318512
gnomAD v2:
1-19199116-C-T
gnomAD v3:
1-18872622-C-T
gnomAD v4:
1-18872622-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.18872622C>T , CM000663.2:g.18872622C>T | GRCh38 |
| NC_000001.10:g.19199116C>T , CM000663.1:g.19199116C>T | GRCh37 |
| NC_000001.9:g.19071703C>T | NCBI36 |
| NG_012283.1:g.35178G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375341.8:c.*223G>A MANE Select | ENSP00000364490.3:n.*223G>A | |
| ENST00000290597.9:c.*41+182G>A | ENSP00000290597.5:n.*41+182G>A | |
| ENST00000375341.7:c.*223G>A | ENSP00000364490.3:n.*223G>A | |
| ENST00000494072.3:c.2631+1841G>A | ||
| ENST00000538839.5:c.*223G>A | ENSP00000446071.1:n.*223G>A | |
| NM_001161504.1:c.*223G>A | NP_001154976.1:n.*223G>A | |
| NM_003748.3:c.*223G>A | NP_003739.2:n.*223G>A | |
| NM_170726.2:c.*41+182G>A | NP_733844.1:n.*41+182G>A | |
| XM_011542352.1:c.*223G>A | XP_011540654.1:n.*223G>A | |
| XR_946786.1:n.1784G>A | ||
| NM_001319218.1:c.*223G>A | NP_001306147.1:n.*223G>A | |
| XR_001737510.1:n.1631G>A | ||
| NM_003748.4:c.*223G>A MANE Select | NP_003739.2:n.*223G>A | |
| NM_170726.3:c.*41+182G>A | NP_733844.1:n.*41+182G>A | |
| NM_001161504.2:c.*223G>A | NP_001154976.1:n.*223G>A | |
| NM_001319218.2:c.*223G>A | NP_001306147.1:n.*223G>A |