Linked Data
ClinVar Variation Id:
3015458
ClinVar RCV Id:
RCV003871065
dbSNP Id:
rs1049053117
gnomAD v4:
5-128339059-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128339059T>C , CM000667.2:g.128339059T>C | GRCh38 |
| NC_000005.9:g.127674751T>C , CM000667.1:g.127674751T>C | GRCh37 |
| NC_000005.8:g.127702650T>C | NCBI36 |
| NG_008750.1:g.203985A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.130A>G | ||
| ENST00000703785.1:n.211A>G | ||
| ENST00000262464.9:c.3346A>G MANE Select | ENSP00000262464.4:p.Ile1116Val | |
| ENST00000262464.8:c.3346A>G | ENSP00000262464.4:p.Ile1116Val | |
| ENST00000507835.5:c.-105A>G | ENSP00000426839.1:n.-105A>G | |
| ENST00000508053.5:c.3346A>G | ENSP00000424571.1:p.Ile1116Val | |
| ENST00000508989.5:c.3247A>G | ENSP00000425596.1:p.Ile1083Val | |
| ENST00000619499.4:c.3343A>G | ENSP00000482132.1:p.Ile1115Val | |
| NM_001999.3:c.3346A>G | NP_001990.2:p.Ile1116Val | |
| XM_017009228.2:c.3193A>G | XP_016864717.1:p.Ile1065Val | |
| NM_001999.4:c.3346A>G MANE Select | NP_001990.2:p.Ile1116Val |