Linked Data
ClinVar Variation Id:
866103
dbSNP Id:
rs754774098
ExAC:
1:216040404 A / C
gnomAD v2:
1-216040404-A-C
gnomAD v3:
1-215867062-A-C
gnomAD v4:
1-215867062-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215867062A>C , CM000663.2:g.215867062A>C | GRCh38 |
| NC_000001.10:g.216040404A>C , CM000663.1:g.216040404A>C | GRCh37 |
| NC_000001.9:g.214107027A>C | NCBI36 |
| NG_009497.1:g.561335T>G | |
| NG_009497.2:g.561387T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.8790T>G MANE Select | ENSP00000305941.3:p.Asn2930Lys | |
| ENST00000674083.1:c.8790T>G | ENSP00000501296.1:p.Asn2930Lys | |
| ENST00000307340.7:c.8790T>G | ENSP00000305941.3:p.Asn2930Lys | |
| NM_206933.2:c.8790T>G | NP_996816.2:p.Asn2930Lys | |
| NM_206933.3:c.8790T>G | NP_996816.2:p.Asn2930Lys | |
| NM_206933.4:c.8790T>G MANE Select | NP_996816.3:p.Asn2930Lys |