Linked Data
ClinVar Variation Id:
1592281
ClinVar RCV Id:
RCV002122206
dbSNP Id:
rs758061248
ExAC:
8:87656012 G / A
gnomAD v2:
8-87656012-G-A
gnomAD v3:
8-86643784-G-A
gnomAD v4:
8-86643784-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86643784G>A , CM000670.2:g.86643784G>A | GRCh38 |
| NC_000008.10:g.87656012G>A , CM000670.1:g.87656012G>A | GRCh37 |
| NC_000008.9:g.87725128G>A | NCBI36 |
| NG_016980.1:g.104892C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.1145C>T MANE Select | ENSP00000316605.5:p.Thr382Ile | |
| ENST00000681546.1:n.965C>T | ||
| ENST00000681746.1:c.1145C>T | ENSP00000505959.1:p.Thr382Ile | |
| ENST00000320005.5:c.1145C>T | ENSP00000316605.5:p.Thr382Ile | |
| NM_019098.4:c.1145C>T | NP_061971.3:p.Thr382Ile | |
| XM_011517138.1:c.731C>T | XP_011515440.1:p.Thr244Ile | |
| XM_011517138.2:c.731C>T | XP_011515440.1:p.Thr244Ile | |
| NM_019098.5:c.1145C>T MANE Select | NP_061971.3:p.Thr382Ile |