Linked Data
ClinVar Variation Id:
335654
dbSNP Id:
rs546110503
ExAC:
2:29295388 C / T
gnomAD v2:
2-29295388-C-T
gnomAD v3:
2-29072522-C-T
gnomAD v4:
2-29072522-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29072522C>T , CM000664.2:g.29072522C>T | GRCh38 |
| NC_000002.11:g.29295388C>T , CM000664.1:g.29295388C>T | GRCh37 |
| NC_000002.10:g.29148892C>T | NCBI36 |
| NG_021427.1:g.6740G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.1740G>A MANE Select | ENSP00000332809.4:p.Thr580= | |
| ENST00000331664.5:c.1740G>A | ENSP00000332809.4:p.Thr580= | |
| NM_001029883.2:c.1740G>A | NP_001025054.1:p.Thr580= | |
| XM_011532826.1:c.1740G>A | XP_011531128.1:p.Thr580= | |
| XR_939901.1:n.185+3355C>T | ||
| XR_939902.1:n.173+3367C>T | ||
| NM_001029883.3:c.1740G>A MANE Select | NP_001025054.1:p.Thr580= |