Linked Data
ClinVar Variation Id:
2933748
ClinVar RCV Id:
RCV003793306
dbSNP Id:
rs2044026856
gnomAD v4:
15-48537793-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48537793G>A , CM000677.2:g.48537793G>A | GRCh38 |
| NC_000015.9:g.48829990G>A , CM000677.1:g.48829990G>A | GRCh37 |
| NC_000015.8:g.46617282G>A | NCBI36 |
| NG_008805.2:g.112996C>T , LRG_778:g.112996C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.554C>T | ENSP00000453958.2:p.Pro185Leu | |
| ENST00000674301.2:c.554C>T | ENSP00000501333.2:p.Pro185Leu | |
| ENST00000316623.10:c.554C>T MANE Select | ENSP00000325527.5:p.Pro185Leu | |
| ENST00000316623.9:c.554C>T | ENSP00000325527.5:p.Pro185Leu | |
| ENST00000537463.6:c.554C>T | ENSP00000440294.2:p.Pro185Leu | |
| NM_000138.4:c.554C>T , LRG_778t1:c.554C>T | NP_000129.3:p.Pro185Leu | |
| NM_000138.5:c.554C>T MANE Select | NP_000129.3:p.Pro185Leu |