Linked Data
ClinVar Variation Id:
294338
ClinVar RCV Id:
RCV000356904
dbSNP Id:
rs115664776
gnomAD v2:
1-19198166-G-A
gnomAD v3:
1-18871672-G-A
gnomAD v4:
1-18871672-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.18871672G>A , CM000663.2:g.18871672G>A | GRCh38 |
| NC_000001.10:g.19198166G>A , CM000663.1:g.19198166G>A | GRCh37 |
| NC_000001.9:g.19070753G>A | NCBI36 |
| NG_012283.1:g.36128C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375341.8:c.*1173C>T MANE Select | ENSP00000364490.3:n.*1173C>T | |
| ENST00000290597.9:c.*160C>T | ENSP00000290597.5:n.*160C>T | |
| ENST00000375341.7:c.*1173C>T | ENSP00000364490.3:n.*1173C>T | |
| ENST00000494072.3:c.2631+2791C>T | ||
| ENST00000538839.5:c.*1173C>T | ENSP00000446071.1:n.*1173C>T | |
| NM_001161504.1:c.*1173C>T | NP_001154976.1:n.*1173C>T | |
| NM_003748.3:c.*1173C>T | NP_003739.2:n.*1173C>T | |
| NM_170726.2:c.*160C>T | NP_733844.1:n.*160C>T | |
| XM_011542352.1:c.*1173C>T | XP_011540654.1:n.*1173C>T | |
| XR_946786.1:n.2734C>T | ||
| NM_001319218.1:c.*1173C>T | NP_001306147.1:n.*1173C>T | |
| XR_001737510.1:n.2581C>T | ||
| NM_003748.4:c.*1173C>T MANE Select | NP_003739.2:n.*1173C>T | |
| NM_170726.3:c.*160C>T | NP_733844.1:n.*160C>T | |
| NM_001161504.2:c.*1173C>T | NP_001154976.1:n.*1173C>T | |
| NM_001319218.2:c.*1173C>T | NP_001306147.1:n.*1173C>T |