Linked Data
dbSNP Id:
rs200430183
ExAC:
7:142655012 G / A
gnomAD v2:
7-142655012-G-A
gnomAD v3:
7-142957925-G-A
gnomAD v4:
7-142957925-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142957925G>A , CM000669.2:g.142957925G>A | GRCh38 |
| NC_000007.13:g.142655012G>A , CM000669.1:g.142655012G>A | GRCh37 |
| NC_000007.12:g.142365134G>A | NCBI36 |
| NG_007492.1:g.9492C>T | |
| NG_007492.2:g.9492C>T | |
| NG_007492.3:g.9492C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355265.7:c.574C>T MANE Select | ENSP00000347409.2:p.Arg192Ter | |
| ENST00000467543.6:c.*426C>T | ENSP00000420011.2:n.*426C>T | |
| ENST00000355265.6:c.574C>T | ENSP00000347409.2:p.Arg192Ter | |
| ENST00000467543.5:c.517C>T | ENSP00000420011.1:p.Arg173Ter | |
| ENST00000476829.5:c.525+379C>T | ENSP00000419889.1:n.525+379C>T | |
| ENST00000479768.6:n.692C>T | ||
| ENST00000494148.1:n.173C>T | ||
| NM_000420.2:c.574C>T | NP_000411.1:p.Arg192Ter | |
| XM_005249993.2:c.610C>T | XP_005250050.1:p.Arg204Ter | |
| NM_000420.3:c.574C>T MANE Select | NP_000411.1:p.Arg192Ter |