Linked Data
ClinVar Variation Id:
195706
dbSNP Id:
rs148293985
ExAC:
11:22301267 A / C
gnomAD v2:
11-22301267-A-C
gnomAD v3:
11-22279721-A-C
gnomAD v4:
11-22279721-A-C
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22279721A>C , CM000673.2:g.22279721A>C | GRCh38 |
| NC_000011.9:g.22301267A>C , CM000673.1:g.22301267A>C | GRCh37 |
| NC_000011.8:g.22257843A>C | NCBI36 |
| NG_015844.1:g.91546A>C , LRG_868:g.91546A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682266.1:c.2248A>C | ENSP00000507766.1:p.Met750Leu | |
| ENST00000682341.1:c.2656A>C | ENSP00000508251.1:p.Met886Leu | |
| ENST00000683197.1:c.*162A>C | ENSP00000507641.1:n.*162A>C | |
| ENST00000683411.1:c.2248A>C | ENSP00000508397.1:p.Met750Leu | |
| ENST00000683437.1:c.2248A>C | ENSP00000508408.1:p.Met750Leu | |
| ENST00000683613.1:n.3692A>C | ||
| ENST00000684663.1:c.2653A>C | ENSP00000508009.1:p.Met885Leu | |
| ENST00000324559.9:c.2698A>C MANE Select | ENSP00000315371.9:p.Met900Leu | |
| ENST00000648804.1:n.3033A>C | ||
| ENST00000324559.8:c.2698A>C | ENSP00000315371.8:p.Met900Leu | |
| NM_001142649.1:c.2695A>C | NP_001136121.1:p.Met899Leu | |
| NM_213599.2:c.2698A>C , LRG_868t1:c.2698A>C | NP_998764.1:p.Met900Leu | |
| XM_005252820.2:c.2656A>C | XP_005252877.2:p.Met886Leu | |
| XM_005252821.2:c.2653A>C | XP_005252878.2:p.Met885Leu | |
| XM_005252822.3:c.2620A>C | XP_005252879.1:p.Met874Leu | |
| XM_005252823.3:c.2617A>C | XP_005252880.1:p.Met873Leu | |
| XM_011519949.1:c.2605A>C | XP_011518251.1:p.Met869Leu | |
| XM_005252820.3:c.2656A>C | XP_005252877.2:p.Met886Leu | |
| XM_005252821.3:c.2653A>C | XP_005252878.2:p.Met885Leu | |
| XM_005252822.4:c.2620A>C | XP_005252879.1:p.Met874Leu | |
| XM_011519949.2:c.2605A>C | XP_011518251.1:p.Met869Leu | |
| NM_001142649.2:c.2695A>C | NP_001136121.1:p.Met899Leu | |
| NM_213599.3:c.2698A>C MANE Select | NP_998764.1:p.Met900Leu |