Linked Data
ClinVar Variation Id:
6526
ClinVar RCV Id:
RCV000006899
dbSNP Id:
rs267606958
PubMed:
PMID:18024216
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47945963C>T , CM000679.2:g.47945963C>T | GRCh38 |
| NC_000017.10:g.46023329C>T , CM000679.1:g.46023329C>T | GRCh37 |
| NC_000017.9:g.43378328C>T | NCBI36 |
| NG_008744.1:g.9441C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225573.5:c.417+351C>T | ENSP00000225573.5:n.417+351C>T | |
| ENST00000434554.7:c.466C>T | ENSP00000399960.3:p.Gln156Ter | |
| ENST00000582171.6:c.*185C>T | ENSP00000463994.1:n.*185C>T | |
| ENST00000583245.6:n.492C>T | ||
| ENST00000583599.6:c.280C>T | ENSP00000463919.2:p.Gln94Ter | |
| ENST00000584061.6:c.451C>T | ENSP00000463972.2:p.Gln151Ter | |
| ENST00000584806.2:n.215+351C>T | ||
| ENST00000641285.1:n.300C>T | ||
| ENST00000641305.1:n.1686C>T | ||
| ENST00000641323.1:c.*539C>T | ENSP00000492965.1:n.*539C>T | |
| ENST00000641427.1:n.520C>T | ||
| ENST00000641511.1:c.279-360C>T | ||
| ENST00000641703.1:c.236C>T | ENSP00000493219.1:n.236C>T | |
| ENST00000641709.1:c.*342C>T | ENSP00000493349.1:n.*342C>T | |
| ENST00000641856.1:c.*1028C>T | ENSP00000493224.1:n.*1028C>T | |
| ENST00000642017.2:c.520C>T MANE Select | ENSP00000493302.2:p.Gln174Ter | |
| ENST00000225573.4:c.520C>T | ENSP00000225573.4:p.Gln174Ter | |
| ENST00000434554.6:c.417+351C>T | ENSP00000399960.2:n.417+351C>T | |
| ENST00000582171.5:c.*185C>T | ENSP00000463994.1:n.*185C>T | |
| ENST00000583245.5:c.*539C>T | ENSP00000463520.1:n.*539C>T | |
| ENST00000583599.5:c.280C>T | ENSP00000463919.1:p.Gln94Ter | |
| ENST00000584806.1:n.215+351C>T | ||
| ENST00000585320.5:c.*29-360C>T | ENSP00000462345.1:n.*29-360C>T | |
| NM_018129.3:c.520C>T | NP_060599.1:p.Gln174Ter | |
| XM_005257500.2:c.280C>T | XP_005257557.1:p.Gln94Ter | |
| XM_011524968.1:c.235C>T | XP_011523270.1:p.Gln79Ter | |
| XM_005257500.3:c.280C>T | XP_005257557.1:p.Gln94Ter | |
| XM_011524968.2:c.235C>T | XP_011523270.1:p.Gln79Ter | |
| XM_017024813.1:c.280C>T | XP_016880302.1:p.Gln94Ter | |
| NM_018129.4:c.520C>T MANE Select | NP_060599.1:p.Gln174Ter |