Linked Data
ClinVar Variation Id:
97179
ClinVar RCV Id:
RCV000083412
dbSNP Id:
rs66737144
PubMed:
PMID:16786505
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38381430G>T , CM000685.2:g.38381430G>T | GRCh38 |
| NC_000023.10:g.38240683G>T , CM000685.1:g.38240683G>T | GRCh37 |
| NC_000023.9:g.38125627G>T | NCBI36 |
| NG_008471.1:g.33948G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000039007.5:c.386+1G>T MANE Select | ENSP00000039007.4:n.386+1G>T | |
| ENST00000643344.1:c.*136+1G>T | ENSP00000496606.1:n.*136+1G>T | |
| ENST00000039007.4:c.386+1G>T | ENSP00000039007.4:n.386+1G>T | |
| ENST00000465127.1:c.172-284691G>T | ENSP00000417050.1:n.172-284691G>T | |
| ENST00000488812.1:n.423+1G>T | ||
| NM_000531.5:c.386+1G>T | NP_000522.3:n.386+1G>T | |
| XM_017029556.1:c.386+1G>T | XP_016885045.1:n.386+1G>T | |
| NM_000531.6:c.386+1G>T MANE Select | NP_000522.3:n.386+1G>T |