Linked Data
ClinVar Variation Id:
295
dbSNP Id:
rs121964894
ExAC:
12:6145654 G / A
gnomAD v2:
12-6145654-G-A
gnomAD v3:
12-6036488-G-A
gnomAD v4:
12-6036488-G-A
ERepo:
CA114137/MONDO:0015631/090
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6036488G>A , CM000674.2:g.6036488G>A | GRCh38 |
| NC_000012.11:g.6145654G>A , CM000674.1:g.6145654G>A | GRCh37 |
| NC_000012.10:g.6015915G>A | NCBI36 |
| NG_009072.1:g.93183C>T | |
| NG_009072.2:g.93183C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.2446C>T MANE Select | ENSP00000261405.5:p.Arg816Trp | |
| ENST00000261405.9:c.2446C>T | ENSP00000261405.5:p.Arg816Trp | |
| ENST00000538635.5:n.421-42554C>T | ||
| NM_000552.3:c.2446C>T | NP_000543.2:p.Arg816Trp | |
| NM_000552.4:c.2446C>T | NP_000543.2:p.Arg816Trp | |
| NM_000552.5:c.2446C>T MANE Select | NP_000543.3:p.Arg816Trp |