Linked Data
ClinVar Variation Id:
16311
dbSNP Id:
rs72549331
gnomAD v2:
1-171083479-G-T
gnomAD v4:
1-171114339-G-T
PubMed:
PMID:10479479
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171114339G>T , CM000663.2:g.171114339G>T | GRCh38 |
| NC_000001.10:g.171083479G>T , CM000663.1:g.171083479G>T | GRCh37 |
| NC_000001.9:g.169350103G>T | NCBI36 |
| NG_012690.1:g.28462G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367755.9:c.1160G>T MANE Select | ENSP00000356729.4:p.Arg387Leu | |
| ENST00000367755.8:c.1160G>T | ENSP00000356729.4:p.Arg387Leu | |
| NM_001002294.2:c.1160G>T | NP_001002294.1:p.Arg387Leu | |
| NM_006894.5:c.1160G>T | NP_008825.4:p.Arg387Leu | |
| XM_005245044.1:c.971G>T | XP_005245101.1:p.Arg324Leu | |
| XM_011509345.1:c.1100G>T | XP_011507647.1:p.Arg367Leu | |
| XM_011509346.1:c.1100G>T | XP_011507648.1:p.Arg367Leu | |
| NM_001319173.1:c.1100G>T | NP_001306102.1:p.Arg367Leu | |
| NM_001319174.1:c.971G>T | NP_001306103.1:p.Arg324Leu | |
| XM_011509345.3:c.1100G>T | XP_011507647.1:p.Arg367Leu | |
| XM_024454365.1:c.413G>T | XP_024310133.1:p.Arg138Leu | |
| NM_001002294.3:c.1160G>T MANE Select | NP_001002294.1:p.Arg387Leu | |
| NM_001319173.2:c.1100G>T | NP_001306102.1:p.Arg367Leu | |
| NM_001319174.2:c.971G>T | NP_001306103.1:p.Arg324Leu | |
| NM_006894.6:c.1160G>T | NP_008825.4:p.Arg387Leu |