Linked Data
ClinVar Variation Id:
319997
dbSNP Id:
rs144375086
ExAC:
16:57017293 C / T
gnomAD v2:
16-57017293-C-T
gnomAD v3:
16-56983381-C-T
gnomAD v4:
16-56983381-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56983381C>T , CM000678.2:g.56983381C>T | GRCh38 |
| NC_000016.9:g.57017293C>T , CM000678.1:g.57017293C>T | GRCh37 |
| NC_000016.8:g.55574794C>T | NCBI36 |
| NG_008952.1:g.26459C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000200676.8:c.1377C>T MANE Select | ENSP00000200676.3:p.Asp459= | |
| ENST00000650358.1:n.1775C>T | ||
| ENST00000200676.7:c.1377C>T | ENSP00000200676.3:p.Asp459= | |
| ENST00000379780.6:c.1197C>T | ENSP00000369106.2:p.Asp399= | |
| ENST00000566128.1:c.1182C>T | ENSP00000456276.1:p.Asp394= | |
| NM_000078.2:c.1377C>T | NP_000069.2:p.Asp459= | |
| NM_001286085.1:c.1197C>T | NP_001273014.1:p.Asp399= | |
| NM_000078.3:c.1377C>T MANE Select | NP_000069.2:p.Asp459= | |
| NM_001286085.2:c.1197C>T | NP_001273014.1:p.Asp399= |