Linked Data
ClinVar Variation Id:
2428393
ClinVar RCV Id:
RCV003120004
dbSNP Id:
rs1258611317
gnomAD v2:
20-31023889-C-T
gnomAD v3:
20-32436086-C-T
gnomAD v4:
20-32436086-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32436086C>T , CM000682.2:g.32436086C>T | GRCh38 |
| NC_000020.10:g.31023889C>T , CM000682.1:g.31023889C>T | GRCh37 |
| NC_000020.9:g.30487550C>T | NCBI36 |
| NG_027868.1:g.82743C>T , LRG_630:g.82743C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375687.10:c.3374C>T MANE Select | ENSP00000364839.4:p.Ala1125Val | |
| ENST00000646985.1:c.3191C>T | ENSP00000495053.1:p.Ala1064Val | |
| ENST00000647223.1:n.5727C>T | ||
| ENST00000651418.1:c.1869+1505C>T | ENSP00000499150.1:n.1869+1505C>T | |
| ENST00000306058.9:c.3359C>T | ENSP00000305119.5:p.Ala1120Val | |
| ENST00000375687.8:c.3374C>T | ENSP00000364839.4:p.Ala1125Val | |
| ENST00000613218.4:c.3374C>T | ENSP00000480487.1:p.Ala1125Val | |
| ENST00000620121.4:c.3374C>T | ENSP00000481978.1:p.Ala1125Val | |
| NM_015338.5:c.3374C>T , LRG_630t1:c.3374C>T | NP_056153.2:p.Ala1125Val | |
| XM_006723727.2:c.3371C>T | XP_006723790.1:p.Ala1124Val | |
| XM_006723728.2:c.3344C>T | XP_006723791.1:p.Ala1115Val | |
| XM_006723730.2:c.3290C>T | XP_006723793.1:p.Ala1097Val | |
| XM_006723732.2:c.3191C>T | XP_006723795.1:p.Ala1064Val | |
| XM_006723733.1:c.2690C>T | XP_006723796.1:p.Ala897Val | |
| XM_011528647.1:c.3638C>T | XP_011526949.1:p.Ala1213Val | |
| XM_011528648.1:c.3635C>T | XP_011526950.1:p.Ala1212Val | |
| XM_011528649.1:c.3554C>T | XP_011526951.1:p.Ala1185Val | |
| XM_011528650.1:c.3485C>T | XP_011526952.1:p.Ala1162Val | |
| XM_011528651.1:c.3353C>T | XP_011526953.1:p.Ala1118Val | |
| XM_011528652.1:c.3290C>T | XP_011526954.1:p.Ala1097Val | |
| NM_001363734.1:c.3191C>T | NP_001350663.1:p.Ala1064Val | |
| XM_006723727.3:c.3371C>T | XP_006723790.1:p.Ala1124Val | |
| XM_006723728.3:c.3344C>T | XP_006723791.1:p.Ala1115Val | |
| XM_006723730.4:c.3290C>T | XP_006723793.1:p.Ala1097Val | |
| XM_011528648.3:c.3635C>T | XP_011526950.1:p.Ala1212Val | |
| XM_011528652.2:c.3290C>T | XP_011526954.1:p.Ala1097Val | |
| XM_017027704.1:c.3290C>T | XP_016883193.1:p.Ala1097Val | |
| XM_017027705.1:c.3290C>T | XP_016883194.1:p.Ala1097Val | |
| XM_017027706.1:c.3221C>T | XP_016883195.1:p.Ala1074Val | |
| NM_015338.6:c.3374C>T MANE Select | NP_056153.2:p.Ala1125Val |