Linked Data
dbSNP Id:
rs773510136
ExAC:
19:41930357 T / G
gnomAD v2:
19-41930357-T-G
gnomAD v3:
19-41424452-T-G
gnomAD v4:
19-41424452-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41424452T>G , CM000681.2:g.41424452T>G | GRCh38 |
| NC_000019.9:g.41930357T>G , CM000681.1:g.41930357T>G | GRCh37 |
| NC_000019.8:g.46622197T>G | NCBI36 |
| NG_013004.1:g.31664T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.1182T>G MANE Select | ENSP00000269980.2:p.Phe394Leu | |
| ENST00000269980.6:c.1182T>G | ENSP00000269980.2:p.Phe394Leu | |
| ENST00000457836.6:c.1191T>G | ENSP00000416000.2:p.Phe397Leu | |
| ENST00000540732.3:c.1284T>G | ENSP00000443246.1:p.Phe428Leu | |
| ENST00000544905.1:c.62-50T>G | ||
| ENST00000595085.5:c.922+1755T>G | ENSP00000471150.2:n.922+1755T>G | |
| NM_000709.3:c.1182T>G | NP_000700.1:p.Phe394Leu | |
| NM_001164783.1:c.1179T>G | NP_001158255.1:p.Phe393Leu | |
| NM_000709.4:c.1182T>G MANE Select | NP_000700.1:p.Phe394Leu | |
| NM_001164783.2:c.1179T>G | NP_001158255.1:p.Phe393Leu |