Linked Data
dbSNP Id:
rs10378
ExAC:
7:150501455 G / T
gnomAD v2:
7-150501455-G-T
gnomAD v3:
7-150804367-G-T
gnomAD v4:
7-150804367-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150804367G>T , CM000669.2:g.150804367G>T | GRCh38 |
| NC_000007.13:g.150501455G>T , CM000669.1:g.150501455G>T | GRCh37 |
| NC_000007.12:g.150132388G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000004103.8:c.561G>T MANE Select | ENSP00000004103.3:p.Leu187Phe | |
| ENST00000468689.2:c.384G>T | ENSP00000420081.2:p.Leu128Phe | |
| ENST00000004103.7:c.561G>T | ENSP00000004103.3:p.Leu187Phe | |
| ENST00000461345.5:c.384G>T | ENSP00000420818.1:p.Leu128Phe | |
| ENST00000462826.1:n.1778-460G>T | ||
| ENST00000474166.1:n.220G>T | ||
| ENST00000475007.5:n.457G>T | ||
| ENST00000475536.5:c.417G>T | ENSP00000417834.1:p.Leu139Phe | |
| ENST00000481305.1:n.367-460G>T | ||
| ENST00000484928.5:c.561G>T | ENSP00000417626.1:p.Leu187Phe | |
| ENST00000494349.5:n.1107G>T | ||
| NM_018487.2:c.561G>T | NP_060957.2:p.Leu187Phe | |
| XM_011516376.1:c.612G>T | XP_011514678.1:p.Leu204Phe | |
| XM_011516377.1:c.612G>T | XP_011514679.1:p.Leu204Phe | |
| XM_011516378.1:c.607-460G>T | XP_011514680.1:n.607-460G>T | |
| XM_011516376.3:c.612G>T | XP_011514678.1:p.Leu204Phe | |
| XM_011516377.2:c.612G>T | XP_011514679.1:p.Leu204Phe | |
| XM_011516378.2:c.607-460G>T | XP_011514680.1:n.607-460G>T | |
| XM_017012393.1:c.561G>T | XP_016867882.1:p.Leu187Phe | |
| XM_024446824.1:c.556-460G>T | XP_024302592.1:n.556-460G>T | |
| NM_018487.3:c.561G>T MANE Select | NP_060957.2:p.Leu187Phe |