Linked Data
dbSNP Id:
rs778113344
ExAC:
2:88874705 G / A
gnomAD v2:
2-88874705-G-A
gnomAD v4:
2-88575187-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.88575187G>A , CM000664.2:g.88575187G>A | GRCh38 |
| NC_000002.11:g.88874705G>A , CM000664.1:g.88874705G>A | GRCh37 |
| NC_000002.10:g.88655820G>A | NCBI36 |
| NG_016424.1:g.57390C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478003.2:n.2124C>T | ||
| ENST00000682276.1:n.1741C>T | ||
| ENST00000682892.1:c.1843C>T | ENSP00000507214.1:p.Leu615Phe | |
| ENST00000682952.1:n.1935C>T | ||
| ENST00000684455.1:c.1509C>T | ||
| ENST00000684642.1:c.1693C>T | ENSP00000507355.1:p.Leu565Phe | |
| ENST00000684740.1:n.2474C>T | ||
| ENST00000303236.9:c.2296C>T MANE Select | ENSP00000307235.3:p.Leu766Phe | |
| ENST00000652099.1:c.2490C>T | ||
| ENST00000652736.1:n.2172C>T | ||
| ENST00000303236.7:c.2296C>T | ENSP00000307235.3:p.Leu766Phe | |
| ENST00000415570.1:c.1933C>T | ENSP00000412076.1:p.Leu645Phe | |
| ENST00000419748.5:c.1843C>T | ENSP00000408325.1:p.Leu615Phe | |
| ENST00000470706.1:n.49-110C>T | ||
| NM_001313915.1:c.1843C>T | NP_001300844.1:p.Leu615Phe | |
| NM_004836.5:c.2296C>T | NP_004827.4:p.Leu766Phe | |
| NM_004836.6:c.2296C>T | NP_004827.4:p.Leu766Phe | |
| NR_110236.1:n.1324G>A | ||
| XM_005264649.3:c.1612C>T | XP_005264706.1:p.Leu538Phe | |
| XM_017005376.2:c.1612C>T | XP_016860865.1:p.Leu538Phe | |
| NM_004836.7:c.2296C>T MANE Select | NP_004827.4:p.Leu766Phe | |
| NM_001313915.2:c.1843C>T | NP_001300844.1:p.Leu615Phe |