Linked Data
ClinVar Variation Id:
451509
dbSNP Id:
rs776952611
ExAC:
1:33276312 C / T
gnomAD v2:
1-33276312-C-T
gnomAD v3:
1-32810711-C-T
gnomAD v4:
1-32810711-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.32810711C>T , CM000663.2:g.32810711C>T | GRCh38 |
| NC_000001.10:g.33276312C>T , CM000663.1:g.33276312C>T | GRCh37 |
| NC_000001.9:g.33048899C>T | NCBI36 |
| NG_008408.1:g.12322G>A , LRG_273:g.12322G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000675785.2:c.113G>A | ENSP00000502019.1:p.Trp38Ter | |
| ENST00000373477.9:c.260G>A MANE Select | ENSP00000362576.4:p.Trp87Ter | |
| ENST00000481895.6:c.260G>A | ENSP00000502016.1:p.Trp87Ter | |
| ENST00000616261.2:c.260G>A | ENSP00000484192.2:p.Trp87Ter | |
| ENST00000674629.1:c.58-4100G>A | ENSP00000502470.1:n.58-4100G>A | |
| ENST00000674654.1:c.260G>A | ENSP00000501729.1:p.Trp87Ter | |
| ENST00000675785.1:c.113G>A | ENSP00000502019.1:p.Trp38Ter | |
| ENST00000676297.1:c.260G>A | ENSP00000501596.1:p.Trp87Ter | |
| ENST00000373477.8:c.260G>A | ENSP00000362576.4:p.Trp87Ter | |
| ENST00000481895.5:n.333G>A | ||
| ENST00000616261.1:c.260G>A | ENSP00000484192.1:p.Trp87Ter | |
| NM_003680.3:c.260G>A , LRG_273t1:c.260G>A | NP_003671.1:p.Trp87Ter | |
| XM_011542347.1:c.-250-4100G>A | XP_011540649.1:n.-250-4100G>A | |
| XM_011542348.1:c.-297-4100G>A | XP_011540650.1:n.-297-4100G>A | |
| XM_011542347.2:c.-250-4100G>A | XP_011540649.1:n.-250-4100G>A | |
| XM_017002651.2:c.-418G>A | XP_016858140.1:n.-418G>A | |
| NM_003680.4:c.260G>A MANE Select | NP_003671.1:p.Trp87Ter |