Linked Data
dbSNP Id:
rs759136152
ExAC:
7:99358468 A / T
gnomAD v2:
7-99358468-A-T
gnomAD v3:
7-99760845-A-T
gnomAD v4:
7-99760845-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99760845A>T , CM000669.2:g.99760845A>T | GRCh38 |
| NC_000007.13:g.99358468A>T , CM000669.1:g.99358468A>T | GRCh37 |
| NC_000007.12:g.99196404A>T | NCBI36 |
| NG_008421.1:g.28341T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336411.7:c.1483T>A | ENSP00000337915.3:p.Ser495Thr | |
| ENST00000651162.1:n.825T>A | ||
| ENST00000651514.1:c.1390T>A MANE Select | ENSP00000498939.1:p.Ser464Thr | |
| ENST00000651783.1:c.931T>A | ENSP00000498924.1:p.Ser311Thr | |
| ENST00000652018.1:c.1243T>A | ENSP00000498733.1:p.Ser415Thr | |
| ENST00000336411.6:c.1390T>A | ENSP00000337915.2:p.Ser464Thr | |
| ENST00000354593.6:c.940T>A | ENSP00000346607.2:p.Ser314Thr | |
| NM_001202855.2:c.1387T>A | NP_001189784.1:p.Ser463Thr | |
| NM_017460.5:c.1390T>A | NP_059488.2:p.Ser464Thr | |
| XM_011515841.1:c.1483T>A | XP_011514143.1:p.Ser495Thr | |
| XM_011515842.1:c.1480T>A | XP_011514144.1:p.Ser494Thr | |
| NM_017460.6:c.1390T>A MANE Select | NP_059488.2:p.Ser464Thr | |
| NM_001202855.3:c.1387T>A | NP_001189784.1:p.Ser463Thr |