Linked Data
dbSNP Id:
rs750942824
ExAC:
1:12025543 T / C
gnomAD v2:
1-12025543-T-C
gnomAD v4:
1-11965486-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11965486T>C , CM000663.2:g.11965486T>C | GRCh38 |
| NC_000001.10:g.12025543T>C , CM000663.1:g.12025543T>C | GRCh37 |
| NC_000001.9:g.11948130T>C | NCBI36 |
| NG_008159.1:g.35798T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196061.5:c.1477T>C MANE Select | ENSP00000196061.4:p.Phe493Leu | |
| ENST00000196061.4:c.1477T>C | ENSP00000196061.4:p.Phe493Leu | |
| ENST00000470133.1:n.91T>C | ||
| ENST00000491536.5:n.105T>C | ||
| NM_000302.3:c.1477T>C | NP_000293.2:p.Phe493Leu | |
| NM_001316320.1:c.1618T>C | NP_001303249.1:p.Phe540Leu | |
| XM_011541594.1:c.1558T>C | XP_011539896.1:p.Phe520Leu | |
| XM_024447707.1:c.811T>C | XP_024303475.1:p.Phe271Leu | |
| NM_000302.4:c.1477T>C MANE Select | NP_000293.2:p.Phe493Leu | |
| NM_001316320.2:c.1618T>C | NP_001303249.1:p.Phe540Leu |