Linked Data
dbSNP Id:
rs781349864
ExAC:
7:142655060 G / A
gnomAD v2:
7-142655060-G-A
gnomAD v3:
7-142957973-G-A
gnomAD v4:
7-142957973-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142957973G>A , CM000669.2:g.142957973G>A | GRCh38 |
| NC_000007.13:g.142655060G>A , CM000669.1:g.142655060G>A | GRCh37 |
| NC_000007.12:g.142365182G>A | NCBI36 |
| NG_007492.1:g.9444C>T | |
| NG_007492.2:g.9444C>T | |
| NG_007492.3:g.9444C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355265.7:c.526C>T MANE Select | ENSP00000347409.2:p.Leu176Phe | |
| ENST00000467543.6:c.*378C>T | ENSP00000420011.2:n.*378C>T | |
| ENST00000355265.6:c.526C>T | ENSP00000347409.2:p.Leu176Phe | |
| ENST00000467543.5:c.469C>T | ENSP00000420011.1:p.Leu157Phe | |
| ENST00000476829.5:c.525+331C>T | ENSP00000419889.1:n.525+331C>T | |
| ENST00000479768.6:n.644C>T | ||
| ENST00000494148.1:n.125C>T | ||
| NM_000420.2:c.526C>T | NP_000411.1:p.Leu176Phe | |
| XM_005249993.2:c.562C>T | XP_005250050.1:p.Leu188Phe | |
| NM_000420.3:c.526C>T MANE Select | NP_000411.1:p.Leu176Phe |