Linked Data
ClinVar Variation Id:
2139906
dbSNP Id:
rs1167399158
gnomAD v2:
8-97157147-A-G
gnomAD v3:
8-96144919-A-G
gnomAD v4:
8-96144919-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.96144919A>G , CM000670.2:g.96144919A>G | GRCh38 |
| NC_000008.10:g.97157147A>G , CM000670.1:g.97157147A>G | GRCh37 |
| NC_000008.9:g.97226323A>G | NCBI36 |
| NG_008981.1:g.20874T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287020.7:c.1012T>C MANE Select | ENSP00000287020.4:p.Phe338Leu | |
| ENST00000287020.6:c.1012T>C | ENSP00000287020.4:p.Phe338Leu | |
| ENST00000620978.1:c.793+157T>C | ENSP00000480170.1:n.793+157T>C | |
| ENST00000621429.1:c.875-114T>C | ENSP00000483711.1:n.875-114T>C | |
| NM_001001557.2:c.1012T>C | NP_001001557.1:p.Phe338Leu | |
| XM_011517030.1:c.613T>C | XP_011515332.1:p.Phe205Leu | |
| NM_001001557.3:c.1012T>C | NP_001001557.1:p.Phe338Leu | |
| NM_001001557.4:c.1012T>C MANE Select | NP_001001557.1:p.Phe338Leu |