Linked Data
ClinVar Variation Id:
1710130
ClinVar RCV Id:
RCV002291067
COSMIC:
COSM4117808
MutSpliceDB:
CA352427214
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.45513133A>C , CM000665.2:g.45513133A>C | GRCh38 |
| NC_000003.11:g.45554625A>C , CM000665.1:g.45554625A>C | GRCh37 |
| NC_000003.10:g.45529629A>C | NCBI36 |
| NG_033907.1:g.129551A>C | |
| NG_033907.2:g.129551A>C | |
| NG_033907.3:g.129570A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265537.8:c.*151-2A>C | ENSP00000265537.4:n.*151-2A>C | |
| ENST00000642274.1:c.1761-2A>C | ENSP00000495707.1:n.1761-2A>C | |
| ENST00000645846.2:c.1761-2A>C MANE Select | ENSP00000495093.1:n.1761-2A>C | |
| ENST00000650792.2:c.1761-2A>C | ENSP00000498867.1:n.1761-2A>C | |
| ENST00000651549.1:c.*51-2A>C | ENSP00000499002.1:n.*51-2A>C | |
| ENST00000652135.1:c.*1629-2A>C | ENSP00000499104.1:n.*1629-2A>C | |
| ENST00000265537.7:c.1761-2A>C | ENSP00000265537.3:n.1761-2A>C | |
| ENST00000414984.5:c.1632-2A>C | ENSP00000412893.1:n.1632-2A>C | |
| ENST00000415258.5:c.1761-2A>C | ENSP00000408576.1:n.1761-2A>C | |
| ENST00000467936.5:n.40-2A>C | ||
| NM_015340.3:c.1761-2A>C | NP_056155.1:n.1761-2A>C | |
| XM_005265006.1:c.1761-2A>C | XP_005265063.1:n.1761-2A>C | |
| XM_011533554.1:c.1761-2A>C | XP_011531856.1:n.1761-2A>C | |
| XM_005265006.2:c.1761-2A>C | XP_005265063.1:n.1761-2A>C | |
| XM_011533554.2:c.1761-2A>C | XP_011531856.1:n.1761-2A>C | |
| XM_017006042.1:c.1761-2A>C | XP_016861531.1:n.1761-2A>C | |
| NM_015340.4:c.1761-2A>C MANE Select | NP_056155.1:n.1761-2A>C | |
| NM_001368263.1:c.1761-2A>C | NP_001355192.1:n.1761-2A>C |