dbSNP:
Revel Score:
ENST00000369947 (MANE Select)
0.213
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.77462742G>A , CM000668.2:g.77462742G>A | GRCh38 |
| NC_000006.11:g.78172459G>A , CM000668.1:g.78172459G>A | GRCh37 |
| NC_000006.10:g.78229178G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369947.5:c.662C>T MANE Select | ENSP00000358963.3:p.Thr221Ile | |
| ENST00000369947.3:c.662C>T | ENSP00000358963.2:p.Thr221Ile | |
| NM_000863.1:c.662C>T | NP_000854.1:p.Thr221Ile | |
| NM_000863.2:c.662C>T | NP_000854.1:p.Thr221Ile | |
| XR_942706.1:n.545-11784G>A | ||
| XR_942707.1:n.545-11784G>A | ||
| XR_942708.1:n.545-11784G>A | ||
| XR_942709.1:n.545-11784G>A | ||
| XR_942708.2:n.545-11784G>A | ||
| NM_000863.3:c.662C>T MANE Select | NP_000854.1:p.Thr221Ile |