Linked Data
ClinVar Variation Id:
236537
ClinVar RCV Id:
RCV000225477
RCV000482491
RCV000675144
RCV001252669
RCV003324522
RCV003137832
RCV003469118
RCV004532830
dbSNP Id:
rs368675850
ExAC:
1:215901725 G / A
gnomAD v2:
1-215901725-G-A
gnomAD v3:
1-215728383-G-A
gnomAD v4:
1-215728383-G-A
ERepo:
CA1393629/MONDO:0019501/005
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215728383G>A , CM000663.2:g.215728383G>A | GRCh38 |
| NC_000001.10:g.215901725G>A , CM000663.1:g.215901725G>A | GRCh37 |
| NC_000001.9:g.213968348G>A | NCBI36 |
| NG_009497.1:g.700014C>T | |
| NG_009497.2:g.700066C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.11713C>T MANE Select | ENSP00000305941.3:p.Arg3905Cys | |
| ENST00000674083.1:c.11713C>T | ENSP00000501296.1:p.Arg3905Cys | |
| ENST00000307340.7:c.11713C>T | ENSP00000305941.3:p.Arg3905Cys | |
| NM_206933.2:c.11713C>T | NP_996816.2:p.Arg3905Cys | |
| NM_206933.3:c.11713C>T | NP_996816.2:p.Arg3905Cys | |
| NM_206933.4:c.11713C>T MANE Select | NP_996816.3:p.Arg3905Cys |