Linked Data
dbSNP Id:
rs565726855
ExAC:
13:28498438 C / A
gnomAD v2:
13-28498438-C-A
gnomAD v4:
13-27924301-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924301C>A , CM000675.2:g.27924301C>A | GRCh38 |
| NC_000013.10:g.28498438C>A , CM000675.1:g.28498438C>A | GRCh37 |
| NC_000013.9:g.27396438C>A | NCBI36 |
| NG_008183.1:g.9271C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.452C>A MANE Select | ENSP00000370421.4:p.Thr151Lys | |
| ENST00000381033.4:c.452C>A | ENSP00000370421.4:p.Thr151Lys | |
| NM_000209.3:c.452C>A | NP_000200.1:p.Thr151Lys | |
| XR_941579.1:n.2178C>A | ||
| XR_941580.1:n.1094C>A | ||
| XR_941578.2:n.3591C>A | ||
| XR_941580.2:n.1106C>A | ||
| NM_000209.4:c.452C>A MANE Select | NP_000200.1:p.Thr151Lys |