Linked Data
ClinVar Variation Id:
12753
ClinVar RCV Id:
RCV000087021
dbSNP Id:
rs104894199
gnomAD v2:
11-118215139-A-G
gnomAD v4:
11-118344424-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118344424A>G , CM000673.2:g.118344424A>G | GRCh38 |
| NC_000011.9:g.118215139A>G , CM000673.1:g.118215139A>G | GRCh37 |
| NC_000011.8:g.117720349A>G | NCBI36 |
| NG_007566.1:g.5081A>G , LRG_39:g.5081A>G | |
| NG_009891.1:g.3321T>C , LRG_37:g.3321T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000532917.3:c.1A>G MANE Select | ENSP00000431445.2:p.Met1Val | |
| ENST00000292144.8:c.1A>G | ENSP00000292144.4:p.Met1Val | |
| ENST00000392883.6:c.-180A>G | ENSP00000376621.2:n.-180A>G | |
| ENST00000527777.5:n.81A>G | ||
| ENST00000528540.5:n.39A>G | ||
| ENST00000532903.1:n.18A>G | ||
| ENST00000532917.1:c.1A>G | ENSP00000431445.1:p.Met1Val | |
| ENST00000533462.5:n.81A>G | ||
| NM_000073.2:c.1A>G , LRG_39t1:c.1A>G | NP_000064.1:p.Met1Val | |
| XM_005271724.2:c.1A>G | XP_005271781.1:p.Met1Val | |
| XM_006718941.2:c.1A>G | XP_006719004.1:p.Met1Val | |
| XM_005271724.4:c.1A>G | XP_005271781.1:p.Met1Val | |
| XM_006718941.3:c.1A>G | XP_006719004.1:p.Met1Val | |
| NM_000073.3:c.1A>G MANE Select | NP_000064.1:p.Met1Val |