Linked Data
ClinVar Variation Id:
1371450
ClinVar RCV Id:
RCV001899575
dbSNP Id:
rs760857914
ExAC:
7:98573836 C / T
gnomAD v2:
7-98573836-C-T
gnomAD v3:
7-98976213-C-T
gnomAD v4:
7-98976213-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.98976213C>T , CM000669.2:g.98976213C>T | GRCh38 |
| NC_000007.13:g.98573836C>T , CM000669.1:g.98573836C>T | GRCh37 |
| NC_000007.12:g.98411772C>T | NCBI36 |
| NG_030010.1:g.102724C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000446306.8:c.7829C>T | ENSP00000403708.3:p.Thr2610Met | |
| ENST00000704588.1:c.3641C>T | ENSP00000515962.1:p.Thr1214Met | |
| ENST00000360902.2:c.317C>T | ENSP00000496512.1:p.Thr106Met | |
| ENST00000456197.2:c.7904C>T MANE Select | ENSP00000394645.2:p.Thr2635Met | |
| ENST00000355540.7:c.7829C>T | ENSP00000347733.3:p.Thr2610Met | |
| ENST00000359863.8:c.7883C>T | ENSP00000352925.4:p.Thr2628Met | |
| ENST00000446306.7:c.7829C>T | ENSP00000403708.3:p.Thr2610Met | |
| ENST00000456197.1:c.7048C>T | ||
| ENST00000480695.1:n.254C>T | ||
| ENST00000628380.2:c.7829C>T | ENSP00000485781.1:p.Thr2610Met | |
| NM_001244580.1:c.7883C>T | NP_001231509.1:p.Thr2628Met | |
| NM_003496.3:c.7829C>T | NP_003487.1:p.Thr2610Met | |
| NM_001375524.1:c.7904C>T MANE Select | NP_001362453.1:p.Thr2635Met | |
| NM_001244580.2:c.7883C>T | NP_001231509.1:p.Thr2628Met | |
| NM_003496.4:c.7829C>T | NP_003487.1:p.Thr2610Met |