Linked Data
dbSNP Id:
rs781503569
ExAC:
7:87144718 A / T
gnomAD v2:
7-87144718-A-T
gnomAD v3:
7-87515402-A-T
gnomAD v4:
7-87515402-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87515402A>T , CM000669.2:g.87515402A>T | GRCh38 |
| NC_000007.13:g.87144718A>T , CM000669.1:g.87144718A>T | GRCh37 |
| NC_000007.12:g.86982654A>T | NCBI36 |
| NG_011513.1:g.202847T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265724.8:c.3111T>A | ENSP00000265724.3:p.Phe1037Leu | |
| ENST00000622132.5:c.3111T>A MANE Select | ENSP00000478255.1:p.Phe1037Leu | |
| ENST00000265724.7:c.3111T>A | ENSP00000265724.3:p.Phe1037Leu | |
| ENST00000475929.5:n.267T>A | ||
| ENST00000488737.6:n.753T>A | ||
| ENST00000496821.5:n.739T>A | ||
| ENST00000543898.5:c.2919T>A | ENSP00000444095.1:p.Phe973Leu | |
| ENST00000622132.4:c.3111T>A | ENSP00000478255.1:p.Phe1037Leu | |
| NM_000927.4:c.3111T>A | NP_000918.2:p.Phe1037Leu | |
| NM_001348944.1:c.3111T>A | NP_001335873.1:p.Phe1037Leu | |
| NM_001348945.1:c.3321T>A | NP_001335874.1:p.Phe1107Leu | |
| NM_001348946.1:c.3111T>A | NP_001335875.1:p.Phe1037Leu | |
| NM_001348946.2:c.3111T>A MANE Select | NP_001335875.1:p.Phe1037Leu | |
| NM_000927.5:c.3111T>A | NP_000918.2:p.Phe1037Leu | |
| NM_001348944.2:c.3111T>A | NP_001335873.1:p.Phe1037Leu | |
| NM_001348945.2:c.3321T>A | NP_001335874.1:p.Phe1107Leu |