Linked Data
ClinVar Variation Id:
902608
ClinVar RCV Id:
RCV001149293
dbSNP Id:
rs1023863848
gnomAD v2:
3-58413396-A-T
gnomAD v3:
3-58427669-A-T
gnomAD v4:
3-58427669-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.58427669A>T , CM000665.2:g.58427669A>T | GRCh38 |
| NC_000003.11:g.58413396A>T , CM000665.1:g.58413396A>T | GRCh37 |
| NC_000003.10:g.58388436A>T | NCBI36 |
| NG_016860.1:g.11184T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302746.11:c.*365T>A MANE Select | ENSP00000307241.6:n.*365T>A | |
| ENST00000302746.10:c.*365T>A | ENSP00000307241.6:n.*365T>A | |
| ENST00000383714.8:c.*365T>A | ENSP00000373220.4:n.*365T>A | |
| ENST00000469364.5:c.*831T>A | ENSP00000419580.1:n.*831T>A | |
| NM_000925.3:c.*365T>A | NP_000916.2:n.*365T>A | |
| NM_001173468.1:c.*365T>A | NP_001166939.1:n.*365T>A | |
| NM_001315536.1:c.*365T>A | NP_001302465.1:n.*365T>A | |
| NR_033384.1:n.1558T>A | ||
| NM_000925.4:c.*365T>A MANE Select | NP_000916.2:n.*365T>A | |
| NM_001173468.2:c.*365T>A | NP_001166939.1:n.*365T>A | |
| NM_001315536.2:c.*365T>A | NP_001302465.1:n.*365T>A | |
| NR_033384.2:n.1551T>A |