Linked Data
dbSNP Id:
rs139509516
ExAC:
10:50669495 C / T
gnomAD v2:
10-50669495-C-T
gnomAD v3:
10-49461449-C-T
gnomAD v4:
10-49461449-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49461449C>T , CM000672.2:g.49461449C>T | GRCh38 |
| NC_000010.10:g.50669495C>T , CM000672.1:g.50669495C>T | GRCh37 |
| NC_000010.9:g.50339501C>T | NCBI36 |
| NG_009442.1:g.82653G>A , LRG_465:g.82653G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.3886G>A MANE Select | ENSP00000348089.5:p.Ala1296Thr | |
| ENST00000679552.1:n.957G>A | ||
| ENST00000679871.1:n.1032G>A | ||
| ENST00000679974.1:n.935G>A | ||
| ENST00000681632.1:n.5289G>A | ||
| ENST00000681659.1:c.3727G>A | ENSP00000505631.1:p.Ala1243Thr | |
| ENST00000355832.9:c.3886G>A | ENSP00000348089.5:p.Ala1296Thr | |
| ENST00000465653.1:n.208G>A | ||
| ENST00000623073.3:c.*2182G>A | ENSP00000485650.1:n.*2182G>A | |
| ENST00000623115.3:c.1996G>A | ENSP00000485321.1:p.Ala666Thr | |
| ENST00000624341.3:c.1718G>A | ||
| NM_000124.3:c.3886G>A | NP_000115.1:p.Ala1296Thr | |
| XR_945953.1:n.243-10116C>T | ||
| NM_001346440.1:c.3886G>A | NP_001333369.1:p.Ala1296Thr | |
| NM_000124.4:c.3886G>A MANE Select | NP_000115.1:p.Ala1296Thr | |
| NM_001346440.2:c.3886G>A | NP_001333369.1:p.Ala1296Thr |