Linked Data
dbSNP Id:
rs749416136
ExAC:
1:245027194 T / A
gnomAD v2:
1-245027194-T-A
gnomAD v4:
1-244863892-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.244863892T>A , CM000663.2:g.244863892T>A | GRCh38 |
| NC_000001.10:g.245027194T>A , CM000663.1:g.245027194T>A | GRCh37 |
| NC_000001.9:g.243093817T>A | NCBI36 |
| NG_042184.1:g.5634A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704074.1:c.94A>T | ||
| ENST00000283179.14:c.416A>T | ENSP00000283179.10:p.Gln139Leu | |
| ENST00000444376.7:c.416A>T | ENSP00000393151.2:p.Gln139Leu | |
| ENST00000476241.2:n.601A>T | ||
| ENST00000638475.1:c.200A>T | ENSP00000491305.1:p.Gln67Leu | |
| ENST00000638952.1:n.647A>T | ||
| ENST00000640218.2:c.416A>T MANE Select | ENSP00000491215.1:p.Gln139Leu | |
| ENST00000640306.1:c.416A>T | ENSP00000491685.1:p.Gln139Leu | |
| ENST00000640440.1:c.116A>T | ENSP00000491263.1:p.Gln39Leu | |
| ENST00000649899.1:n.640A>T | ||
| ENST00000283179.13:c.416A>T | ENSP00000283179.9:p.Gln139Leu | |
| ENST00000444376.6:c.416A>T | ENSP00000393151.2:p.Gln139Leu | |
| ENST00000476241.1:n.600A>T | ||
| NM_004501.3:c.416A>T | NP_004492.2:p.Gln139Leu | |
| NM_031844.2:c.416A>T | NP_114032.2:p.Gln139Leu | |
| NM_031844.3:c.416A>T MANE Select | NP_114032.2:p.Gln139Leu |