Linked Data
ClinVar Variation Id:
235841
ClinVar RCV Id:
RCV000224843
dbSNP Id:
rs878853138
PubMed:
PMID:24726473
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.10696257G>A , CM000680.2:g.10696257G>A | GRCh38 |
| NC_000018.9:g.10696255G>A , CM000680.1:g.10696255G>A | GRCh37 |
| NC_000018.8:g.10686255G>A | NCBI36 |
| NG_034005.1:g.457506C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000383408.7:c.*109C>T | ENSP00000372900.4:n.*109C>T | |
| ENST00000685517.1:n.1746C>T | ||
| ENST00000674853.1:c.7007C>T MANE Select | ENSP00000501957.1:p.Ser2336Leu | |
| ENST00000302079.10:c.6668C>T | ENSP00000303316.6:p.Ser2223Leu | |
| ENST00000383408.6:c.6521C>T | ENSP00000372900.3:p.Ser2174Leu | |
| ENST00000503781.7:c.6668C>T | ENSP00000421377.3:p.Ser2223Leu | |
| ENST00000538948.5:c.539C>T | ENSP00000443129.1:p.Ser180Leu | |
| ENST00000580640.5:c.6743C>T | ENSP00000463094.1:p.Ser2248Leu | |
| ENST00000582913.5:c.6874C>T | ENSP00000462115.1:n.6874C>T | |
| NM_022068.3:c.6668C>T | NP_071351.2:p.Ser2223Leu | |
| XM_011525723.1:c.6800C>T | XP_011524025.1:p.Ser2267Leu | |
| XM_011525724.1:c.6743C>T | XP_011524026.1:p.Ser2248Leu | |
| XM_011525725.1:c.6710C>T | XP_011524027.1:p.Ser2237Leu | |
| XM_011525726.1:c.6617C>T | XP_011524028.1:p.Ser2206Leu | |
| XM_011525723.3:c.6800C>T | XP_011524025.1:p.Ser2267Leu | |
| XM_011525724.3:c.6743C>T | XP_011524026.1:p.Ser2248Leu | |
| XM_011525725.3:c.6710C>T | XP_011524027.1:p.Ser2237Leu | |
| XM_011525726.3:c.6617C>T | XP_011524028.1:p.Ser2206Leu | |
| XM_017025918.2:c.6761C>T | XP_016881407.1:p.Ser2254Leu | |
| XR_001753259.2:n.7797C>T | ||
| NM_001378183.1:c.7007C>T MANE Select | NP_001365112.1:p.Ser2336Leu | |
| NM_022068.4:c.6668C>T | NP_071351.2:p.Ser2223Leu |