Linked Data
ClinVar Variation Id:
338769
ClinVar RCV Id:
RCV000284529
dbSNP Id:
rs138721208
gnomAD v2:
20-50406760-C-T
gnomAD v3:
20-51790221-C-T
gnomAD v4:
20-51790221-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.51790221C>T , CM000682.2:g.51790221C>T | GRCh38 |
| NC_000020.10:g.50406760C>T , CM000682.1:g.50406760C>T | GRCh37 |
| NC_000020.9:g.49840167C>T | NCBI36 |
| NG_008000.1:g.17289G>A , LRG_675:g.17289G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000217086.9:c.2262G>A MANE Select | ENSP00000217086.4:p.Val754= | |
| ENST00000217086.8:c.2262G>A | ENSP00000217086.4:p.Val754= | |
| ENST00000371539.7:c.131-1080G>A | ENSP00000360594.3:n.131-1080G>A | |
| ENST00000395997.3:c.1151-1080G>A | ENSP00000379319.3:n.1151-1080G>A | |
| NM_020436.3:c.2262G>A , LRG_675t1:c.2262G>A | NP_065169.1:p.Val754= | |
| XM_005260467.2:c.1956G>A | XP_005260524.1:p.Val652= | |
| XM_006723834.2:c.1956G>A | XP_006723897.1:p.Val652= | |
| XM_011528919.1:c.2136G>A | XP_011527221.1:p.Val712= | |
| XM_011528920.1:c.1956G>A | XP_011527222.1:p.Val652= | |
| XM_011528921.1:c.1956G>A | XP_011527223.1:p.Val652= | |
| XM_011528922.1:c.1956G>A | XP_011527224.1:p.Val652= | |
| XM_011528923.1:c.1151-1080G>A | XP_011527225.1:n.1151-1080G>A | |
| NM_001318031.1:c.1151-1080G>A | NP_001304960.1:n.1151-1080G>A | |
| NM_020436.4:c.2262G>A | NP_065169.1:p.Val754= | |
| XM_005260467.4:c.1956G>A | XP_005260524.1:p.Val652= | |
| XM_011528921.2:c.1956G>A | XP_011527223.1:p.Val652= | |
| XM_011528922.2:c.1956G>A | XP_011527224.1:p.Val652= | |
| NM_020436.5:c.2262G>A MANE Select | NP_065169.1:p.Val754= | |
| NM_001318031.2:c.1151-1080G>A | NP_001304960.1:n.1151-1080G>A |