Linked Data
ClinVar Variation Id:
523
ClinVar RCV Id:
RCV000000552
dbSNP Id:
rs587776519
PubMed:
PMID:9106527
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128335592T>C , CM000667.2:g.128335592T>C | GRCh38 |
| NC_000005.9:g.127671284T>C , CM000667.1:g.127671284T>C | GRCh37 |
| NC_000005.8:g.127699183T>C | NCBI36 |
| NG_008750.1:g.207452A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.509-15A>G | ||
| ENST00000703785.1:n.590-15A>G | ||
| ENST00000262464.9:c.3725-15A>G MANE Select | ENSP00000262464.4:n.3725-15A>G | |
| ENST00000262464.8:c.3725-15A>G | ENSP00000262464.4:n.3725-15A>G | |
| ENST00000507835.5:c.275-15A>G | ENSP00000426839.1:n.275-15A>G | |
| ENST00000508053.5:c.3725-15A>G | ENSP00000424571.1:n.3725-15A>G | |
| ENST00000508989.5:c.3626-15A>G | ENSP00000425596.1:n.3626-15A>G | |
| ENST00000619499.4:c.3722-15A>G | ENSP00000482132.1:n.3722-15A>G | |
| NM_001999.3:c.3725-15A>G | NP_001990.2:n.3725-15A>G | |
| XM_017009228.2:c.3572-15A>G | XP_016864717.1:n.3572-15A>G | |
| NM_001999.4:c.3725-15A>G MANE Select | NP_001990.2:n.3725-15A>G |