Linked Data
ClinVar Variation Id:
193874
dbSNP Id:
rs138661581
ExAC:
14:92470257 A / T
gnomAD v2:
14-92470257-A-T
gnomAD v3:
14-92003913-A-T
gnomAD v4:
14-92003913-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.92003913A>T , CM000676.2:g.92003913A>T | GRCh38 |
| NC_000014.8:g.92470257A>T , CM000676.1:g.92470257A>T | GRCh37 |
| NC_000014.7:g.91540010A>T | NCBI36 |
| NG_016970.1:g.41147T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267622.8:c.4063T>A MANE Select | ENSP00000267622.4:p.Ser1355Thr | |
| ENST00000554357.5:c.3209T>A | ||
| NM_004239.3:c.4063T>A | NP_004230.2:p.Ser1355Thr | |
| XM_005268214.2:c.2737T>A | XP_005268271.1:p.Ser913Thr | |
| XM_005268215.2:c.1527+3727T>A | XP_005268272.1:n.1527+3727T>A | |
| XM_006720321.2:c.4060T>A | XP_006720384.1:p.Ser1354Thr | |
| XM_011537361.1:c.4063T>A | XP_011535663.1:p.Ser1355Thr | |
| XR_943560.1:n.4518T>A | ||
| NM_001321851.1:c.4060T>A | NP_001308780.1:p.Ser1354Thr | |
| NM_004239.4:c.4063T>A MANE Select | NP_004230.2:p.Ser1355Thr | |
| XM_017021787.2:c.3358T>A | XP_016877276.1:p.Ser1120Thr | |
| XM_017021788.2:c.2737T>A | XP_016877277.1:p.Ser913Thr | |
| XR_001750598.2:n.4512T>A | ||
| XR_943560.2:n.4512T>A |