Linked Data
ClinVar Variation Id:
1109295
ClinVar RCV Id:
RCV001435125
dbSNP Id:
rs374456364
ExAC:
6:24302029 A / C
gnomAD v2:
6-24302029-A-C
gnomAD v3:
6-24301801-A-C
gnomAD v4:
6-24301801-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24301801A>C , CM000668.2:g.24301801A>C | GRCh38 |
| NC_000006.11:g.24302029A>C , CM000668.1:g.24302029A>C | GRCh37 |
| NC_000006.10:g.24410008A>C | NCBI36 |
| NG_012829.1:g.61252T>G | |
| NG_012829.2:g.86492T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.471T>G MANE Select | ENSP00000367715.3:p.Leu157= | |
| ENST00000378454.7:c.471T>G | ENSP00000367715.3:p.Leu157= | |
| NM_001195610.1:c.471T>G | NP_001182539.1:p.Leu157= | |
| NM_016356.4:c.471T>G | NP_057440.2:p.Leu157= | |
| NM_016356.5:c.471T>G MANE Select | NP_057440.2:p.Leu157= | |
| NM_001195610.2:c.471T>G | NP_001182539.1:p.Leu157= |