Linked Data
ClinVar Variation Id:
2769545
ClinVar RCV Id:
RCV003578786
dbSNP Id:
rs1842972938
gnomAD v4:
10-58785094-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.58785094A>G , CM000672.2:g.58785094A>G | GRCh38 |
| NC_000010.10:g.60544854A>G , CM000672.1:g.60544854A>G | GRCh37 |
| NC_000010.9:g.60214860A>G | NCBI36 |
| NG_029759.2:g.276951A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373886.8:c.387+14A>G MANE Select | ENSP00000362993.3:n.387+14A>G | |
| ENST00000373886.7:c.387+14A>G | ENSP00000362993.3:n.387+14A>G | |
| NM_001080512.2:c.387+14A>G | NP_001073981.1:n.387+14A>G | |
| XM_005270169.3:c.246+14A>G | XP_005270226.1:n.246+14A>G | |
| XM_011540185.1:c.459+14A>G | XP_011538487.1:n.459+14A>G | |
| XM_011540186.1:c.459+14A>G | XP_011538488.1:n.459+14A>G | |
| XM_011540187.1:c.459+14A>G | XP_011538489.1:n.459+14A>G | |
| XM_011540188.1:c.243+14A>G | XP_011538490.1:n.243+14A>G | |
| XM_011540189.1:c.231+14A>G | XP_011538491.1:n.231+14A>G | |
| XM_011540190.1:c.147+14A>G | XP_011538492.1:n.147+14A>G | |
| XM_011540191.1:c.-93A>G | XP_011538493.1:n.-93A>G | |
| XM_005270169.5:c.246+14A>G | XP_005270226.1:n.246+14A>G | |
| XM_011540185.2:c.459+14A>G | XP_011538487.1:n.459+14A>G | |
| XM_011540190.3:c.147+14A>G | XP_011538492.1:n.147+14A>G | |
| XM_011540191.2:c.-93A>G | XP_011538493.1:n.-93A>G | |
| XM_017016677.1:c.255+14A>G | XP_016872166.1:n.255+14A>G | |
| XM_017016678.1:c.243+14A>G | XP_016872167.1:n.243+14A>G | |
| XM_024448174.1:c.474+14A>G | XP_024303942.1:n.474+14A>G | |
| XM_024448175.1:c.147+14A>G | XP_024303943.1:n.147+14A>G | |
| NM_001080512.3:c.387+14A>G MANE Select | NP_001073981.1:n.387+14A>G |