Linked Data
ClinVar Variation Id:
21051
dbSNP Id:
rs80356691
gnomAD v2:
7-143027940-C-T
gnomAD v3:
7-143330847-C-T
gnomAD v4:
7-143330847-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143330847C>T , CM000669.2:g.143330847C>T | GRCh38 |
| NC_000007.13:g.143027940C>T , CM000669.1:g.143027940C>T | GRCh37 |
| NC_000007.12:g.142738062C>T | NCBI36 |
| NG_009815.1:g.19722C>T | |
| NG_009815.2:g.19722C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.929C>T | ENSP00000498052.2:p.Thr310Met | |
| ENST00000343257.7:c.929C>T MANE Select | ENSP00000339867.2:p.Thr310Met | |
| ENST00000432192.6:c.753C>T | ||
| ENST00000455478.6:c.517C>T | ENSP00000400027.2:n.517C>T | |
| ENST00000650516.1:c.929C>T | ENSP00000498052.1:p.Thr310Met | |
| ENST00000343257.6:c.929C>T | ENSP00000339867.2:p.Thr310Met | |
| ENST00000432192.5:c.443C>T | ||
| ENST00000455478.5:c.521C>T | ||
| ENST00000495612.1:n.230C>T | ||
| NM_000083.2:c.929C>T | NP_000074.2:p.Thr310Met | |
| NR_046453.1:n.1019C>T | ||
| XM_011515781.1:c.929C>T | XP_011514083.1:p.Thr310Met | |
| XM_017011739.1:c.479C>T | XP_016867228.1:p.Thr160Met | |
| XM_017011740.1:c.479C>T | XP_016867229.1:p.Thr160Met | |
| NM_000083.3:c.929C>T MANE Select | NP_000074.3:p.Thr310Met | |
| NR_046453.2:n.1034C>T |