Linked Data
dbSNP Id:
rs370111097
ExAC:
4:69535798 G / A
gnomAD v2:
4-69535798-G-A
gnomAD v3:
4-68670080-G-A
gnomAD v4:
4-68670080-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68670080G>A , CM000666.2:g.68670080G>A | GRCh38 |
| NC_000004.11:g.69535798G>A , CM000666.1:g.69535798G>A | GRCh37 |
| NC_000004.10:g.69218393G>A | NCBI36 |
| NG_052676.1:g.5697C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.539C>T MANE Select | ENSP00000341045.5:p.Thr180Ile | |
| ENST00000338206.5:c.539C>T | ENSP00000341045.5:p.Thr180Ile | |
| ENST00000616841.4:c.539C>T | ENSP00000482004.1:p.Thr180Ile | |
| NM_001076.3:c.539C>T | NP_001067.2:p.Thr180Ile | |
| NM_001076.4:c.539C>T MANE Select | NP_001067.2:p.Thr180Ile |