Linked Data
ClinVar Variation Id:
478004
dbSNP Id:
rs144757200
ExAC:
3:64132564 C / T
gnomAD v2:
3-64132564-C-T
gnomAD v3:
3-64146888-C-T
gnomAD v4:
3-64146888-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.64146888C>T , CM000665.2:g.64146888C>T | GRCh38 |
| NC_000003.11:g.64132564C>T , CM000665.1:g.64132564C>T | GRCh37 |
| NC_000003.10:g.64107604C>T | NCBI36 |
| NG_031930.1:g.83568G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295902.11:c.1770G>A | ENSP00000295902.7:p.Thr590= | |
| ENST00000564377.6:c.1602G>A | ENSP00000455004.2:p.Thr534= | |
| ENST00000638394.2:c.1602G>A MANE Select | ENSP00000492363.1:p.Thr534= | |
| ENST00000640095.1:n.2670G>A | ||
| ENST00000640303.1:n.2241G>A | ||
| ENST00000295902.10:c.1602G>A | ENSP00000295902.6:p.Thr534= | |
| ENST00000564377.5:c.1770G>A | ENSP00000455004.1:p.Thr590= | |
| NM_198859.3:c.1602G>A | NP_942559.1:p.Thr534= | |
| XM_011533432.1:c.1878G>A | XP_011531734.1:p.Thr626= | |
| XM_011533433.1:c.1878G>A | XP_011531735.1:p.Thr626= | |
| XM_011533434.1:c.1770G>A | XP_011531736.1:p.Thr590= | |
| XM_011533435.1:c.1770G>A | XP_011531737.1:p.Thr590= | |
| XM_011533436.1:c.1602G>A | XP_011531738.1:p.Thr534= | |
| XM_011533437.1:c.1602G>A | XP_011531739.1:p.Thr534= | |
| XM_011533438.1:c.1251G>A | XP_011531740.1:p.Thr417= | |
| XM_011533439.1:c.1602G>A | XP_011531741.1:p.Thr534= | |
| XM_011533440.1:c.1878G>A | XP_011531742.1:p.Thr626= | |
| XM_011533432.2:c.1878G>A | XP_011531734.1:p.Thr626= | |
| XM_011533433.2:c.1878G>A | XP_011531735.1:p.Thr626= | |
| XM_011533434.2:c.1770G>A | XP_011531736.1:p.Thr590= | |
| XM_011533435.2:c.1770G>A | XP_011531737.1:p.Thr590= | |
| XM_011533436.3:c.1602G>A | XP_011531738.1:p.Thr534= | |
| XM_011533437.2:c.1602G>A | XP_011531739.1:p.Thr534= | |
| XM_011533438.2:c.1251G>A | XP_011531740.1:p.Thr417= | |
| XM_011533440.2:c.1878G>A | XP_011531742.1:p.Thr626= | |
| XM_017005798.1:c.1602G>A | XP_016861287.1:p.Thr534= | |
| XM_017005799.1:c.1230G>A | XP_016861288.1:p.Thr410= | |
| NM_198859.4:c.1602G>A MANE Select | NP_942559.1:p.Thr534= | |
| NM_001370528.1:c.1602G>A | NP_001357457.1:p.Thr534= |