Linked Data
ClinVar Variation Id:
820535
dbSNP Id:
rs1422900655
gnomAD v2:
13-49033901-A-G
gnomAD v4:
13-48459765-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48459765A>G , CM000675.2:g.48459765A>G | GRCh38 |
| NC_000013.10:g.49033901A>G , CM000675.1:g.49033901A>G | GRCh37 |
| NC_000013.9:g.47931902A>G | NCBI36 |
| NG_009009.1:g.161019A>G , LRG_517:g.161019A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.2038A>G MANE Select | ENSP00000267163.4:p.Ile680Val | |
| ENST00000643064.1:c.194+78322A>G | ||
| ENST00000650461.1:c.2038A>G | ENSP00000497193.1:p.Ile680Val | |
| ENST00000267163.4:c.2038A>G | ENSP00000267163.4:p.Ile680Val | |
| NM_000321.2:c.2038A>G , LRG_517t1:c.2038A>G | NP_000312.2:p.Ile680Val | |
| XM_011535171.1:c.1777A>G | XP_011533473.1:p.Ile593Val | |
| XM_011535171.2:c.1777A>G | XP_011533473.1:p.Ile593Val | |
| NM_000321.3:c.2038A>G MANE Select | NP_000312.2:p.Ile680Val |