Linked Data
ClinVar Variation Id:
347574
ClinVar RCV Id:
RCV000400758
dbSNP Id:
rs78607198
gnomAD v2:
4-140394870-T-C
gnomAD v3:
4-139473716-T-C
gnomAD v4:
4-139473716-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.139473716T>C , CM000666.2:g.139473716T>C | GRCh38 |
| NC_000004.11:g.140394870T>C , CM000666.1:g.140394870T>C | GRCh37 |
| NC_000004.10:g.140614320T>C | NCBI36 |
| NG_051587.1:g.25485T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305626.6:c.*590T>C MANE Select | ENSP00000306496.5:n.*590T>C | |
| ENST00000652268.1:c.*590T>C | ENSP00000498778.1:n.*590T>C | |
| ENST00000305626.5:c.*590T>C | ENSP00000306496.5:n.*590T>C | |
| NM_031296.1:c.*590T>C | NP_112586.1:n.*590T>C | |
| XM_011532299.1:c.*590T>C | XP_011530601.1:n.*590T>C | |
| NM_031296.2:c.*590T>C | NP_112586.1:n.*590T>C | |
| NM_031296.3:c.*590T>C MANE Select | NP_112586.1:n.*590T>C |