Linked Data
ClinVar Variation Id:
25318
ClinVar RCV Id:
RCV000022264
dbSNP Id:
rs111033806
PubMed:
PMID:8522334
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34649523G>T , CM000671.2:g.34649523G>T | GRCh38 |
| NC_000009.11:g.34649520G>T , CM000671.1:g.34649520G>T | GRCh37 |
| NC_000009.10:g.34639520G>T | NCBI36 |
| NG_009029.1:g.7886G>T | |
| NG_028966.1:g.2339G>T | |
| NG_009029.2:g.7935G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.*606G>T | ENSP00000509954.1:n.*606G>T | |
| ENST00000378842.8:c.1018G>T MANE Select | ENSP00000368119.4:p.Glu340Ter | |
| ENST00000378842.7:c.1018G>T | ENSP00000368119.3:p.Glu340Ter | |
| ENST00000450095.6:c.691G>T | ENSP00000401956.2:p.Glu231Ter | |
| ENST00000488412.2:n.602G>T | ||
| ENST00000489643.6:n.1426G>T | ||
| ENST00000554550.5:c.*638G>T | ENSP00000451435.1:n.*638G>T | |
| ENST00000554638.5:n.1490G>T | ||
| ENST00000555020.5:n.1807G>T | ||
| ENST00000555754.1:n.466G>T | ||
| ENST00000556278.1:c.432+1067G>T | ENSP00000451792.1:n.432+1067G>T | |
| ENST00000557706.5:n.1593G>T | ||
| NM_000155.3:c.1018G>T | NP_000146.2:p.Glu340Ter | |
| NM_001258332.1:c.691G>T | NP_001245261.1:p.Glu231Ter | |
| NM_000155.4:c.1018G>T MANE Select | NP_000146.2:p.Glu340Ter | |
| NM_001258332.2:c.691G>T | NP_001245261.1:p.Glu231Ter |