Linked Data
ClinVar Variation Id:
100773
ClinVar RCV Id:
RCV000087137
dbSNP Id:
rs587777156
PubMed:
PMID:24166846
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.231738139C>T , CM000664.2:g.231738139C>T | GRCh38 |
| NC_000002.11:g.232602849C>T , CM000664.1:g.232602849C>T | GRCh37 |
| NC_000002.10:g.232311093C>T | NCBI36 |
| NG_034064.1:g.48189G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287600.9:c.140-1G>A MANE Select | ENSP00000287600.4:n.140-1G>A | |
| ENST00000287600.8:c.140-1G>A | ENSP00000287600.4:n.140-1G>A | |
| ENST00000409772.5:c.140-1G>A | ENSP00000387108.1:n.140-1G>A | |
| ENST00000428104.2:c.83-1G>A | ENSP00000399098.2:n.83-1G>A | |
| ENST00000486044.1:n.289-1G>A | ||
| NM_001291018.1:c.140-1G>A | NP_001277947.1:n.140-1G>A | |
| NM_002601.3:c.140-1G>A | NP_002592.1:n.140-1G>A | |
| XM_011511342.1:c.83-1G>A | XP_011509644.1:n.83-1G>A | |
| NM_002601.4:c.140-1G>A MANE Select | NP_002592.1:n.140-1G>A | |
| NM_001291018.2:c.140-1G>A | NP_001277947.1:n.140-1G>A |