Linked Data
ClinVar Variation Id:
640417
ClinVar RCV Id:
RCV000793438
dbSNP Id:
rs746205136
ExAC:
15:48760650 G / A
gnomAD v2:
15-48760650-G-A
gnomAD v4:
15-48468453-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48468453G>A , CM000677.2:g.48468453G>A | GRCh38 |
| NC_000015.9:g.48760650G>A , CM000677.1:g.48760650G>A | GRCh37 |
| NC_000015.8:g.46547942G>A | NCBI36 |
| NG_008805.2:g.182336C>T , LRG_778:g.182336C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.4541C>T | ENSP00000453958.2:p.Pro1514Leu | |
| ENST00000674301.2:c.4541C>T | ENSP00000501333.2:p.Pro1514Leu | |
| ENST00000684448.1:n.3215C>T | ||
| ENST00000316623.10:c.4541C>T MANE Select | ENSP00000325527.5:p.Pro1514Leu | |
| ENST00000316623.9:c.4541C>T | ENSP00000325527.5:p.Pro1514Leu | |
| ENST00000537463.6:c.*304C>T | ENSP00000440294.2:n.*304C>T | |
| NM_000138.4:c.4541C>T , LRG_778t1:c.4541C>T | NP_000129.3:p.Pro1514Leu | |
| NM_000138.5:c.4541C>T MANE Select | NP_000129.3:p.Pro1514Leu |