Linked Data
ClinVar Variation Id:
2407371
dbSNP Id:
rs1043409806
gnomAD v2:
20-50400868-G-A
gnomAD v3:
20-51784329-G-A
gnomAD v4:
20-51784329-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.51784329G>A , CM000682.2:g.51784329G>A | GRCh38 |
| NC_000020.10:g.50400868G>A , CM000682.1:g.50400868G>A | GRCh37 |
| NC_000020.9:g.49834275G>A | NCBI36 |
| NG_008000.1:g.23181C>T , LRG_675:g.23181C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217086.9:c.3098C>T MANE Select | ENSP00000217086.4:p.Thr1033Ile | |
| ENST00000217086.8:c.3098C>T | ENSP00000217086.4:p.Thr1033Ile | |
| ENST00000371539.7:c.767C>T | ENSP00000360594.3:p.Thr256Ile | |
| ENST00000395997.3:c.1787C>T | ENSP00000379319.3:p.Thr596Ile | |
| NM_020436.3:c.3098C>T , LRG_675t1:c.3098C>T | NP_065169.1:p.Thr1033Ile | |
| XM_005260467.2:c.2792C>T | XP_005260524.1:p.Thr931Ile | |
| XM_006723834.2:c.2792C>T | XP_006723897.1:p.Thr931Ile | |
| XM_011528919.1:c.2972C>T | XP_011527221.1:p.Thr991Ile | |
| XM_011528920.1:c.2792C>T | XP_011527222.1:p.Thr931Ile | |
| XM_011528921.1:c.2792C>T | XP_011527223.1:p.Thr931Ile | |
| XM_011528922.1:c.2792C>T | XP_011527224.1:p.Thr931Ile | |
| XM_011528923.1:c.1787C>T | XP_011527225.1:p.Thr596Ile | |
| NM_001318031.1:c.1787C>T | NP_001304960.1:p.Thr596Ile | |
| NM_020436.4:c.3098C>T | NP_065169.1:p.Thr1033Ile | |
| XM_005260467.4:c.2792C>T | XP_005260524.1:p.Thr931Ile | |
| XM_011528921.2:c.2792C>T | XP_011527223.1:p.Thr931Ile | |
| XM_011528922.2:c.2792C>T | XP_011527224.1:p.Thr931Ile | |
| NM_020436.5:c.3098C>T MANE Select | NP_065169.1:p.Thr1033Ile | |
| NM_001318031.2:c.1787C>T | NP_001304960.1:p.Thr596Ile |