Linked Data
ClinVar Variation Id:
525497
ClinVar RCV Id:
RCV000629570
dbSNP Id:
rs115697956
ExAC:
5:54527249 G / A
gnomAD v2:
5-54527249-G-A
gnomAD v3:
5-55231421-G-A
gnomAD v4:
5-55231421-G-A
COSMIC:
COSM139577
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55231421G>A , CM000667.2:g.55231421G>A | GRCh38 |
| NC_000005.9:g.54527249G>A , CM000667.1:g.54527249G>A | GRCh37 |
| NC_000005.8:g.54563006G>A | NCBI36 |
| NG_034201.1:g.7297C>T | |
| NG_051620.1:g.895C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.1007C>T MANE Select | ENSP00000282572.4:p.Pro336Leu | |
| ENST00000282572.4:c.1007C>T | ENSP00000282572.4:p.Pro336Leu | |
| ENST00000501463.2:c.*987C>T | ENSP00000422485.1:n.*987C>T | |
| NM_021147.4:c.1007C>T | NP_066970.3:p.Pro336Leu | |
| NR_125346.1:n.1577C>T | ||
| NR_125347.1:n.1206C>T | ||
| NR_125348.1:n.1071C>T | ||
| NM_021147.5:c.1007C>T MANE Select | NP_066970.3:p.Pro336Leu | |
| NR_125346.2:n.1468C>T | ||
| NR_125347.2:n.1097C>T |