Linked Data
ClinVar Variation Id:
463467
ClinVar RCV Id:
RCV000553870
dbSNP Id:
rs1555201301
gnomAD v4:
12-57750961-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57750961C>G , CM000674.2:g.57750961C>G | GRCh38 |
| NC_000012.11:g.58144744C>G , CM000674.1:g.58144744C>G | GRCh37 |
| NC_000012.10:g.56431011C>G | NCBI36 |
| NG_007484.2:g.6421G>C , LRG_490:g.6421G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000257904.11:c.484G>C MANE Select | ENSP00000257904.5:p.Ala162Pro | |
| ENST00000257904.10:c.484G>C | ENSP00000257904.5:p.Ala162Pro | |
| ENST00000312990.10:c.265-290G>C | ENSP00000316889.6:n.265-290G>C | |
| ENST00000546489.5:c.262G>C | ENSP00000447779.1:p.Ala88Pro | |
| ENST00000547281.5:c.262G>C | ENSP00000447274.1:p.Ala88Pro | |
| ENST00000549606.5:c.-158+1214G>C | ENSP00000447005.1:n.-158+1214G>C | |
| ENST00000550419.5:c.484G>C | ENSP00000448098.1:p.Ala162Pro | |
| ENST00000551706.1:n.850G>C | ||
| ENST00000551800.5:c.262G>C | ENSP00000449391.1:p.Ala88Pro | |
| ENST00000551888.5:n.443-290G>C | ||
| ENST00000552254.5:c.484G>C | ENSP00000449179.1:p.Ala162Pro | |
| ENST00000552388.1:c.484G>C | ENSP00000448963.1:p.Ala162Pro | |
| ENST00000553237.5:c.*123G>C | ENSP00000448885.1:n.*123G>C | |
| NM_000075.3:c.484G>C | NP_000066.1:p.Ala162Pro | |
| NM_000075.4:c.484G>C MANE Select | NP_000066.1:p.Ala162Pro |