Linked Data
ClinVar Variation Id:
219380
ClinVar RCV Id:
RCV000206255
dbSNP Id:
rs746342893
PubMed:
PMID:25963545
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136505028C>A , CM000671.2:g.136505028C>A | GRCh38 |
| NC_000009.11:g.139399480C>A , CM000671.1:g.139399480C>A | GRCh37 |
| NC_000009.10:g.138519301C>A | NCBI36 |
| NG_007458.1:g.45759G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000645828.1:n.2470G>T | ||
| ENST00000651671.1:c.4663G>T MANE Select | ENSP00000498587.1:p.Glu1555Ter | |
| ENST00000679595.1:c.4663G>T | ENSP00000506241.1:p.Glu1555Ter | |
| ENST00000680133.1:c.4549G>T | ENSP00000505319.1:p.Glu1517Ter | |
| ENST00000680218.1:c.4543G>T | ENSP00000505339.1:p.Glu1515Ter | |
| ENST00000680668.1:c.4549G>T | ENSP00000506336.1:p.Glu1517Ter | |
| ENST00000680778.1:c.2260G>T | ENSP00000506033.1:p.Glu754Ter | |
| ENST00000680924.1:c.*2063G>T | ENSP00000506031.1:n.*2063G>T | |
| ENST00000681135.1:c.*2272G>T | ENSP00000506636.1:n.*2272G>T | |
| ENST00000681298.1:n.1476G>T | ||
| ENST00000681454.1:c.*3899G>T | ENSP00000505763.1:n.*3899G>T | |
| ENST00000277541.6:c.4663G>T | ENSP00000277541.6:p.Glu1555Ter | |
| NM_017617.3:c.4663G>T | NP_060087.3:p.Glu1555Ter | |
| XM_011518717.1:c.3964G>T | XP_011517019.1:p.Glu1322Ter | |
| NM_017617.5:c.4663G>T MANE Select | NP_060087.3:p.Glu1555Ter | |
| XM_011518717.2:c.3940G>T | XP_011517019.2:p.Glu1314Ter |