Linked Data
ClinVar Variation Id:
458146
dbSNP Id:
rs749392116
ExAC:
13:49039412 T / G
gnomAD v2:
13-49039412-T-G
gnomAD v4:
13-48465276-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48465276T>G , CM000675.2:g.48465276T>G | GRCh38 |
| NC_000013.10:g.49039412T>G , CM000675.1:g.49039412T>G | GRCh37 |
| NC_000013.9:g.47937413T>G | NCBI36 |
| NG_009009.1:g.166530T>G , LRG_517:g.166530T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.2397T>G MANE Select | ENSP00000267163.4:p.Ile799Met | |
| ENST00000643064.1:c.194+83833T>G | ||
| ENST00000650461.1:c.2397T>G | ENSP00000497193.1:p.Ile799Met | |
| ENST00000267163.4:c.2397T>G | ENSP00000267163.4:p.Ile799Met | |
| NM_000321.2:c.2397T>G , LRG_517t1:c.2397T>G | NP_000312.2:p.Ile799Met | |
| XM_011535171.1:c.2136T>G | XP_011533473.1:p.Ile712Met | |
| XM_011535171.2:c.2136T>G | XP_011533473.1:p.Ile712Met | |
| NM_000321.3:c.2397T>G MANE Select | NP_000312.2:p.Ile799Met |