Linked Data
ClinVar Variation Id:
538431
ClinVar RCV Id:
RCV000647736
dbSNP Id:
rs1553190791
gnomAD v4:
1-155140056-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155140056G>A , CM000663.2:g.155140056G>A | GRCh38 |
| NC_000001.10:g.155112532G>A , CM000663.1:g.155112532G>A | GRCh37 |
| NC_000001.9:g.153379156G>A | NCBI36 |
| NG_012871.1:g.5465C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368400.5:c.185C>T MANE Select | ENSP00000357385.5:p.Ala62Val | |
| ENST00000341298.3:c.185C>T | ENSP00000344338.3:p.Ala62Val | |
| ENST00000368399.1:c.275C>T | ENSP00000357384.1:p.Ala92Val | |
| ENST00000368400.4:c.185C>T | ENSP00000357385.4:p.Ala62Val | |
| NM_018973.3:c.275C>T | NP_061846.2:p.Ala92Val | |
| NM_153741.1:c.185C>T | NP_714963.1:p.Ala62Val | |
| XM_017001498.1:c.185C>T | XP_016856987.1:p.Ala62Val | |
| NM_153741.2:c.185C>T MANE Select | NP_714963.1:p.Ala62Val | |
| NM_018973.4:c.275C>T | NP_061846.2:p.Ala92Val |