Linked Data
ClinVar Variation Id:
2126124
dbSNP Id:
rs767667150
ExAC:
1:17371332 A / G
gnomAD v2:
1-17371332-A-G
gnomAD v4:
1-17044837-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17044837A>G , CM000663.2:g.17044837A>G | GRCh38 |
| NC_000001.10:g.17371332A>G , CM000663.1:g.17371332A>G | GRCh37 |
| NC_000001.9:g.17243919A>G | NCBI36 |
| NG_012340.1:g.14334T>C , LRG_316:g.14334T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.-48T>C | ENSP00000481376.2:n.-48T>C | |
| ENST00000491274.6:c.82T>C | ENSP00000480482.2:p.Phe28Leu | |
| ENST00000375499.8:c.124T>C MANE Select | ENSP00000364649.3:p.Phe42Leu | |
| ENST00000375499.7:c.124T>C | ENSP00000364649.3:p.Phe42Leu | |
| ENST00000463045.2:c.-48T>C | ENSP00000481376.1:n.-48T>C | |
| ENST00000466613.2:n.136T>C | ||
| ENST00000475506.1:n.41T>C | ||
| ENST00000485515.5:n.112T>C | ||
| ENST00000491274.5:c.82T>C | ENSP00000480482.1:p.Phe28Leu | |
| NM_003000.2:c.124T>C , LRG_316t1:c.124T>C | NP_002991.2:p.Phe42Leu | |
| NM_003000.3:c.124T>C MANE Select | NP_002991.2:p.Phe42Leu |