Linked Data
ClinVar Variation Id:
97314
ClinVar RCV Id:
RCV000083560
dbSNP Id:
rs67077695
PubMed:
PMID:9266388
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38352774G>T , CM000685.2:g.38352774G>T | GRCh38 |
| NC_000023.10:g.38212027G>T , CM000685.1:g.38212027G>T | GRCh37 |
| NC_000023.9:g.38096971G>T | NCBI36 |
| NG_008471.1:g.5292G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000039007.5:c.77+1G>T MANE Select | ENSP00000039007.4:n.77+1G>T | |
| ENST00000643344.1:c.77+1G>T | ENSP00000496606.1:n.77+1G>T | |
| ENST00000039007.4:c.77+1G>T | ENSP00000039007.4:n.77+1G>T | |
| ENST00000465127.1:c.172-313347G>T | ENSP00000417050.1:n.172-313347G>T | |
| ENST00000488812.1:n.169+1G>T | ||
| NM_000531.5:c.77+1G>T | NP_000522.3:n.77+1G>T | |
| XM_017029556.1:c.77+1G>T | XP_016885045.1:n.77+1G>T | |
| NM_000531.6:c.77+1G>T MANE Select | NP_000522.3:n.77+1G>T |