Linked Data
ClinVar Variation Id:
516883
ClinVar RCV Id:
RCV000607508
dbSNP Id:
rs1444917250
gnomAD v2:
5-127671142-T-C
gnomAD v4:
5-128335450-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128335450T>C , CM000667.2:g.128335450T>C | GRCh38 |
| NC_000005.9:g.127671142T>C , CM000667.1:g.127671142T>C | GRCh37 |
| NC_000005.8:g.127699041T>C | NCBI36 |
| NG_008750.1:g.207594A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703783.1:n.631+5A>G | ||
| ENST00000703785.1:n.712+5A>G | ||
| ENST00000262464.9:c.3847+5A>G MANE Select | ENSP00000262464.4:n.3847+5A>G | |
| ENST00000262464.8:c.3847+5A>G | ENSP00000262464.4:n.3847+5A>G | |
| ENST00000507835.5:c.397+5A>G | ENSP00000426839.1:n.397+5A>G | |
| ENST00000508053.5:c.3847+5A>G | ENSP00000424571.1:n.3847+5A>G | |
| ENST00000508989.5:c.3748+5A>G | ENSP00000425596.1:n.3748+5A>G | |
| ENST00000619499.4:c.3844+5A>G | ENSP00000482132.1:n.3844+5A>G | |
| NM_001999.3:c.3847+5A>G | NP_001990.2:n.3847+5A>G | |
| XM_017009228.2:c.3694+5A>G | XP_016864717.1:n.3694+5A>G | |
| NM_001999.4:c.3847+5A>G MANE Select | NP_001990.2:n.3847+5A>G |