Linked Data
ClinVar Variation Id:
1247020
ClinVar RCV Id:
RCV001656366
dbSNP Id:
rs1443434
gnomAD v2:
9-100617479-G-T
gnomAD v3:
9-97855197-G-T
gnomAD v4:
9-97855197-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97855197G>T , CM000671.2:g.97855197G>T | GRCh38 |
| NC_000009.11:g.100617479G>T , CM000671.1:g.100617479G>T | GRCh37 |
| NC_000009.10:g.99657300G>T | NCBI36 |
| NG_011979.1:g.6943G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375123.5:c.*161G>T MANE Select | ENSP00000364265.3:n.*161G>T | |
| ENST00000375123.4:c.*161G>T | ENSP00000364265.3:n.*161G>T | |
| NM_004473.3:c.*161G>T | NP_004464.2:n.*161G>T | |
| NM_004473.4:c.*161G>T MANE Select | NP_004464.2:n.*161G>T |