Linked Data
ClinVar Variation Id:
97316
ClinVar RCV Id:
RCV000083562
dbSNP Id:
rs72552301
PubMed:
PMID:8862622
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38352777A>C , CM000685.2:g.38352777A>C | GRCh38 |
| NC_000023.10:g.38212030A>C , CM000685.1:g.38212030A>C | GRCh37 |
| NC_000023.9:g.38096974A>C | NCBI36 |
| NG_008471.1:g.5295A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000039007.5:c.77+4A>C MANE Select | ENSP00000039007.4:n.77+4A>C | |
| ENST00000643344.1:c.77+4A>C | ENSP00000496606.1:n.77+4A>C | |
| ENST00000039007.4:c.77+4A>C | ENSP00000039007.4:n.77+4A>C | |
| ENST00000465127.1:c.172-313344A>C | ENSP00000417050.1:n.172-313344A>C | |
| ENST00000488812.1:n.169+4A>C | ||
| NM_000531.5:c.77+4A>C | NP_000522.3:n.77+4A>C | |
| XM_017029556.1:c.77+4A>C | XP_016885045.1:n.77+4A>C | |
| NM_000531.6:c.77+4A>C MANE Select | NP_000522.3:n.77+4A>C |