Linked Data
ClinVar Variation Id:
915679
ClinVar RCV Id:
RCV001170770
dbSNP Id:
rs1386298731
gnomAD v3:
15-48468049-C-A
gnomAD v4:
15-48468049-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48468049C>A , CM000677.2:g.48468049C>A | GRCh38 |
| NC_000015.9:g.48760246C>A , CM000677.1:g.48760246C>A | GRCh37 |
| NC_000015.8:g.46547538C>A | NCBI36 |
| NG_008805.2:g.182740G>T , LRG_778:g.182740G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.4636G>T | ENSP00000453958.2:p.Asp1546Tyr | |
| ENST00000674301.2:c.4636G>T | ENSP00000501333.2:p.Asp1546Tyr | |
| ENST00000684448.1:n.3310G>T | ||
| ENST00000316623.10:c.4636G>T MANE Select | ENSP00000325527.5:p.Asp1546Tyr | |
| ENST00000316623.9:c.4636G>T | ENSP00000325527.5:p.Asp1546Tyr | |
| ENST00000537463.6:c.*399G>T | ENSP00000440294.2:n.*399G>T | |
| NM_000138.4:c.4636G>T , LRG_778t1:c.4636G>T | NP_000129.3:p.Asp1546Tyr | |
| NM_000138.5:c.4636G>T MANE Select | NP_000129.3:p.Asp1546Tyr |