Linked Data
dbSNP Id:
rs543769986
ExAC:
12:58144494 T / G
gnomAD v2:
12-58144494-T-G
gnomAD v3:
12-57750711-T-G
gnomAD v4:
12-57750711-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57750711T>G , CM000674.2:g.57750711T>G | GRCh38 |
| NC_000012.11:g.58144494T>G , CM000674.1:g.58144494T>G | GRCh37 |
| NC_000012.10:g.56430761T>G | NCBI36 |
| NG_007484.2:g.6671A>C , LRG_490:g.6671A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257904.11:c.577A>C MANE Select | ENSP00000257904.5:p.Thr193Pro | |
| ENST00000257904.10:c.577A>C | ENSP00000257904.5:p.Thr193Pro | |
| ENST00000312990.10:c.265-40A>C | ENSP00000316889.6:n.265-40A>C | |
| ENST00000546489.5:c.355A>C | ENSP00000447779.1:p.Thr119Pro | |
| ENST00000547281.5:c.355A>C | ENSP00000447274.1:p.Thr119Pro | |
| ENST00000549606.5:c.-157-1207A>C | ENSP00000447005.1:n.-157-1207A>C | |
| ENST00000550419.5:c.523-148A>C | ENSP00000448098.1:n.523-148A>C | |
| ENST00000551800.5:c.355A>C | ENSP00000449391.1:p.Thr119Pro | |
| ENST00000551888.5:n.443-40A>C | ||
| ENST00000552254.5:c.577A>C | ENSP00000449179.1:p.Thr193Pro | |
| ENST00000553237.5:c.*216A>C | ENSP00000448885.1:n.*216A>C | |
| NM_000075.3:c.577A>C | NP_000066.1:p.Thr193Pro | |
| NM_000075.4:c.577A>C MANE Select | NP_000066.1:p.Thr193Pro |