Linked Data
ClinVar Variation Id:
1562921
ClinVar RCV Id:
RCV002216240
dbSNP Id:
rs2102778576
gnomAD v4:
1-215798974-T-C
MyVariant Identifiers:
chr1:g.215972316T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215798974T>C , CM000663.2:g.215798974T>C | GRCh38 |
| NC_000001.10:g.215972316T>C , CM000663.1:g.215972316T>C | GRCh37 |
| NC_000001.9:g.214038939T>C | NCBI36 |
| NG_009497.1:g.629423A>G | |
| NG_009497.2:g.629475A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307340.8:c.9891A>G MANE Select | ENSP00000305941.3:p.Arg3297= | |
| ENST00000674083.1:c.9891A>G | ENSP00000501296.1:p.Arg3297= | |
| ENST00000307340.7:c.9891A>G | ENSP00000305941.3:p.Arg3297= | |
| NM_206933.2:c.9891A>G | NP_996816.2:p.Arg3297= | |
| NM_206933.3:c.9891A>G | NP_996816.2:p.Arg3297= | |
| NM_206933.4:c.9891A>G MANE Select | NP_996816.3:p.Arg3297= |