Linked Data
ClinVar Variation Id:
323438
ClinVar RCV Id:
RCV000281167
dbSNP Id:
rs760883576
ExAC:
17:41832891 G / A
gnomAD v2:
17-41832891-G-A
gnomAD v3:
17-43755523-G-A
gnomAD v4:
17-43755523-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43755523G>A , CM000679.2:g.43755523G>A | GRCh38 |
| NC_000017.10:g.41832891G>A , CM000679.1:g.41832891G>A | GRCh37 |
| NC_000017.9:g.39188417G>A | NCBI36 |
| NG_008078.2:g.8266C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301691.3:c.461C>T MANE Select | ENSP00000301691.1:p.Pro154Leu | |
| ENST00000301691.2:c.461C>T | ENSP00000301691.1:p.Pro154Leu | |
| NM_025237.2:c.461C>T | NP_079513.1:p.Pro154Leu | |
| NM_025237.3:c.461C>T MANE Select | NP_079513.1:p.Pro154Leu |