Linked Data
dbSNP Id:
rs1823237582
gnomAD v3:
8-86643781-G-A
gnomAD v4:
8-86643781-G-A
COSMIC:
COSM2789824
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86643781G>A , CM000670.2:g.86643781G>A | GRCh38 |
| NC_000008.10:g.87656009G>A , CM000670.1:g.87656009G>A | GRCh37 |
| NC_000008.9:g.87725125G>A | NCBI36 |
| NG_016980.1:g.104895C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.1148C>T MANE Select | ENSP00000316605.5:p.Thr383Ile | |
| ENST00000681546.1:n.968C>T | ||
| ENST00000681746.1:c.1148C>T | ENSP00000505959.1:p.Thr383Ile | |
| ENST00000320005.5:c.1148C>T | ENSP00000316605.5:p.Thr383Ile | |
| NM_019098.4:c.1148C>T | NP_061971.3:p.Thr383Ile | |
| XM_011517138.1:c.734C>T | XP_011515440.1:p.Thr245Ile | |
| XM_011517138.2:c.734C>T | XP_011515440.1:p.Thr245Ile | |
| NM_019098.5:c.1148C>T MANE Select | NP_061971.3:p.Thr383Ile |