Linked Data
dbSNP Id:
rs753823609
ExAC:
12:58157563 G / A
gnomAD v2:
12-58157563-G-A
gnomAD v3:
12-57763780-G-A
gnomAD v4:
12-57763780-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57763780G>A , CM000674.2:g.57763780G>A | GRCh38 |
| NC_000012.11:g.58157563G>A , CM000674.1:g.58157563G>A | GRCh37 |
| NC_000012.10:g.56443830G>A | NCBI36 |
| NG_007076.1:g.8414C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713544.1:c.1325C>T | ENSP00000518840.1:p.Thr442Ile | |
| ENST00000713545.1:c.*249C>T | ENSP00000518841.1:n.*249C>T | |
| ENST00000228606.9:c.1244C>T MANE Select | ENSP00000228606.4:p.Thr415Ile | |
| ENST00000228606.8:c.1244C>T | ENSP00000228606.4:p.Thr415Ile | |
| ENST00000547344.5:n.1383C>T | ||
| NM_000785.3:c.1244C>T | NP_000776.1:p.Thr415Ile | |
| NM_000785.4:c.1244C>T MANE Select | NP_000776.1:p.Thr415Ile |