Linked Data
ClinVar Variation Id:
402148
ClinVar RCV Id:
RCV000454265
dbSNP Id:
rs1060499744
gnomAD v4:
8-38138822-A-G
PubMed:
PMID:26539891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38138822A>G , CM000670.2:g.38138822A>G | GRCh38 |
| NC_000008.10:g.37996340A>G , CM000670.1:g.37996340A>G | GRCh37 |
| NC_000008.9:g.38115497A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343823.11:c.1726A>G MANE Select | ENSP00000340896.5:p.Ile576Val | |
| ENST00000343823.10:c.1726A>G | ENSP00000340896.5:p.Ile576Val | |
| ENST00000428278.6:c.1444A>G | ENSP00000395310.2:p.Ile482Val | |
| ENST00000517496.5:c.*1214A>G | ENSP00000430889.1:n.*1214A>G | |
| ENST00000520079.1:n.1328A>G | ||
| ENST00000521652.5:c.1345A>G | ENSP00000430259.1:p.Ile449Val | |
| ENST00000521808.5:c.110A>G | ||
| ENST00000524247.5:c.512A>G | ||
| ENST00000545394.2:c.1309A>G | ENSP00000443606.1:p.Ile437Val | |
| NM_001105214.2:c.1444A>G | NP_001098684.1:p.Ile482Val | |
| NM_001261832.1:c.1345A>G | NP_001248761.1:p.Ile449Val | |
| NM_001282272.1:c.1309A>G | NP_001269201.1:p.Ile437Val | |
| NM_004674.4:c.1726A>G | NP_004665.2:p.Ile576Val | |
| XM_005273682.1:c.1744A>G | XP_005273739.1:p.Ile582Val | |
| XM_005273683.1:c.1462A>G | XP_005273740.1:p.Ile488Val | |
| XM_006716412.1:c.1645A>G | XP_006716475.1:p.Ile549Val | |
| XM_006716413.1:c.1627A>G | XP_006716476.1:p.Ile543Val | |
| XM_006716413.3:c.1627A>G | XP_006716476.1:p.Ile543Val | |
| NM_004674.5:c.1726A>G MANE Select | NP_004665.2:p.Ile576Val |