Linked Data
ClinVar Variation Id:
1148982
ClinVar RCV Id:
RCV001489060
dbSNP Id:
rs1361123853
gnomAD v2:
9-133355811-C-T
gnomAD v4:
9-130480424-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130480424C>T , CM000671.2:g.130480424C>T | GRCh38 |
| NC_000009.11:g.133355811C>T , CM000671.1:g.133355811C>T | GRCh37 |
| NC_000009.10:g.132345632C>T | NCBI36 |
| NG_011542.1:g.40718C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.813C>T MANE Select | ENSP00000253004.6:p.Asn271= | |
| ENST00000352480.9:c.813C>T | ENSP00000253004.6:p.Asn271= | |
| ENST00000372386.6:n.84C>T | ||
| ENST00000372393.7:c.813C>T | ENSP00000361469.2:p.Asn271= | |
| ENST00000372394.5:c.813C>T | ENSP00000361471.1:p.Asn271= | |
| ENST00000470849.4:n.538C>T | ||
| ENST00000492400.5:n.322C>T | ||
| ENST00000493984.6:n.590C>T | ||
| NM_000050.4:c.813C>T | NP_000041.2:p.Asn271= | |
| NM_054012.3:c.813C>T | NP_446464.1:p.Asn271= | |
| XM_005272200.2:c.813C>T | XP_005272257.1:p.Asn271= | |
| XM_011518705.1:c.927C>T | XP_011517007.1:p.Asn309= | |
| XM_005272200.3:c.813C>T | XP_005272257.1:p.Asn271= | |
| XM_011518705.2:c.927C>T | XP_011517007.1:p.Asn309= | |
| XM_017014729.1:c.909C>T | XP_016870218.1:p.Asn303= | |
| NM_054012.4:c.813C>T MANE Select | NP_446464.1:p.Asn271= |