Linked Data
ClinVar Variation Id:
2159342
ClinVar RCV Id:
RCV003072765
dbSNP Id:
rs139509516
ExAC:
10:50669495 C / A
gnomAD v2:
10-50669495-C-A
gnomAD v3:
10-49461449-C-A
gnomAD v4:
10-49461449-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49461449C>A , CM000672.2:g.49461449C>A | GRCh38 |
| NC_000010.10:g.50669495C>A , CM000672.1:g.50669495C>A | GRCh37 |
| NC_000010.9:g.50339501C>A | NCBI36 |
| NG_009442.1:g.82653G>T , LRG_465:g.82653G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.3886G>T MANE Select | ENSP00000348089.5:p.Ala1296Ser | |
| ENST00000679552.1:n.957G>T | ||
| ENST00000679871.1:n.1032G>T | ||
| ENST00000679974.1:n.935G>T | ||
| ENST00000681632.1:n.5289G>T | ||
| ENST00000681659.1:c.3727G>T | ENSP00000505631.1:p.Ala1243Ser | |
| ENST00000355832.9:c.3886G>T | ENSP00000348089.5:p.Ala1296Ser | |
| ENST00000465653.1:n.208G>T | ||
| ENST00000623073.3:c.*2182G>T | ENSP00000485650.1:n.*2182G>T | |
| ENST00000623115.3:c.1996G>T | ENSP00000485321.1:p.Ala666Ser | |
| ENST00000624341.3:c.1718G>T | ||
| NM_000124.3:c.3886G>T | NP_000115.1:p.Ala1296Ser | |
| XR_945953.1:n.243-10116C>A | ||
| NM_001346440.1:c.3886G>T | NP_001333369.1:p.Ala1296Ser | |
| NM_000124.4:c.3886G>T MANE Select | NP_000115.1:p.Ala1296Ser | |
| NM_001346440.2:c.3886G>T | NP_001333369.1:p.Ala1296Ser |