Linked Data
ClinVar Variation Id:
337898
ClinVar RCV Id:
RCV000402196
dbSNP Id:
rs371018532
ExAC:
20:2361579 T / C
gnomAD v2:
20-2361579-T-C
gnomAD v3:
20-2380933-T-C
gnomAD v4:
20-2380933-T-C
MyVariant Identifiers:
chr20:g.2361579T>C (hg19)
chr20:g.2361579_2361580delinsCG (hg19)
chr20:g.2380933T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.2380933T>C , CM000682.2:g.2380933T>C | GRCh38 |
| NC_000020.10:g.2361579T>C , CM000682.1:g.2361579T>C | GRCh37 |
| NC_000020.9:g.2309579T>C | NCBI36 |
| NG_031917.1:g.5026T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000202625.7:c.-36T>C MANE Select | ENSP00000202625.2:n.-36T>C | |
| ENST00000202625.6:c.-36T>C | ENSP00000202625.2:n.-36T>C | |
| ENST00000381423.1:c.-36T>C | ENSP00000370831.1:n.-36T>C | |
| NM_001254734.1:c.-36T>C | NP_001241663.1:n.-36T>C | |
| NM_198994.2:c.-36T>C | NP_945345.2:n.-36T>C | |
| NM_001254734.2:c.-36T>C | NP_001241663.1:n.-36T>C | |
| NM_198994.3:c.-36T>C MANE Select | NP_945345.2:n.-36T>C |