Linked Data
ClinVar Variation Id:
430150
ClinVar RCV Id:
RCV000493791
RCV000626616
RCV000626617
RCV000779168
RCV001387308
RCV001293674
RCV002279270
RCV004556061
dbSNP Id:
rs1131691804
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48463123G>A , CM000677.2:g.48463123G>A | GRCh38 |
| NC_000015.9:g.48755320G>A , CM000677.1:g.48755320G>A | GRCh37 |
| NC_000015.8:g.46542612G>A | NCBI36 |
| NG_008805.2:g.187666C>T , LRG_778:g.187666C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.5183C>T | ENSP00000453958.2:p.Ala1728Val | |
| ENST00000674301.2:c.5183C>T | ENSP00000501333.2:p.Ala1728Val | |
| ENST00000684448.1:n.3857C>T | ||
| ENST00000316623.10:c.5183C>T MANE Select | ENSP00000325527.5:p.Ala1728Val | |
| ENST00000674301.1:c.182C>T | ENSP00000501333.1:p.Ala61Val | |
| ENST00000316623.9:c.5183C>T | ENSP00000325527.5:p.Ala1728Val | |
| ENST00000537463.6:c.*946C>T | ENSP00000440294.2:n.*946C>T | |
| ENST00000559133.5:c.490C>T | ||
| NM_000138.4:c.5183C>T , LRG_778t1:c.5183C>T | NP_000129.3:p.Ala1728Val | |
| NM_000138.5:c.5183C>T MANE Select | NP_000129.3:p.Ala1728Val |