Linked Data
ClinVar Variation Id:
880920
ClinVar RCV Id:
RCV001109548
dbSNP Id:
rs1884707636
gnomAD v3:
13-83877210-G-T
gnomAD v4:
13-83877210-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.83877210G>T , CM000675.2:g.83877210G>T | GRCh38 |
| NC_000013.10:g.84451345G>T , CM000675.1:g.84451345G>T | GRCh37 |
| NC_000013.9:g.83349346G>T | NCBI36 |
| NG_016748.1:g.10184C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674365.1:c.*2207C>A MANE Select | ENSP00000501349.1:n.*2207C>A | |
| ENST00000377084.3:c.*2207C>A | ENSP00000366288.2:n.*2207C>A | |
| NM_001281503.1:c.*2207C>A | NP_001268432.1:n.*2207C>A | |
| NM_052910.2:c.*2207C>A | NP_443142.1:n.*2207C>A | |
| NM_001281503.2:c.*2207C>A MANE Select | NP_001268432.1:n.*2207C>A |