Linked Data
ClinVar Variation Id:
281818
dbSNP Id:
rs750396156
ExAC:
1:215848679 G / A
gnomAD v2:
1-215848679-G-A
gnomAD v3:
1-215675337-G-A
gnomAD v4:
1-215675337-G-A
ERepo:
CA1393449/MONDO:0019501/005
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215675337G>A , CM000663.2:g.215675337G>A | GRCh38 |
| NC_000001.10:g.215848679G>A , CM000663.1:g.215848679G>A | GRCh37 |
| NC_000001.9:g.213915302G>A | NCBI36 |
| NG_009497.1:g.753060C>T | |
| NG_009497.2:g.753112C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.12574C>T MANE Select | ENSP00000305941.3:p.Arg4192Cys | |
| ENST00000674083.1:c.12574C>T | ENSP00000501296.1:p.Arg4192Cys | |
| ENST00000307340.7:c.12574C>T | ENSP00000305941.3:p.Arg4192Cys | |
| NM_206933.2:c.12574C>T | NP_996816.2:p.Arg4192Cys | |
| NM_206933.3:c.12574C>T | NP_996816.2:p.Arg4192Cys | |
| NM_206933.4:c.12574C>T MANE Select | NP_996816.3:p.Arg4192Cys |