Linked Data
ClinVar Variation Id:
1139469
ClinVar RCV Id:
RCV001476187
dbSNP Id:
rs146733615
MyVariant Identifiers:
chr1:g.215814065G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215640723G>T , CM000663.2:g.215640723G>T | GRCh38 |
| NC_000001.10:g.215814065G>T , CM000663.1:g.215814065G>T | GRCh37 |
| NC_000001.9:g.213880688G>T | NCBI36 |
| NG_009497.1:g.787674C>A | |
| NG_009497.2:g.787726C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307340.8:c.14803C>A MANE Select | ENSP00000305941.3:p.Arg4935= | |
| ENST00000674083.1:c.14803C>A | ENSP00000501296.1:p.Arg4935= | |
| ENST00000307340.7:c.14803C>A | ENSP00000305941.3:p.Arg4935= | |
| NM_206933.2:c.14803C>A | NP_996816.2:p.Arg4935= | |
| NM_206933.3:c.14803C>A | NP_996816.2:p.Arg4935= | |
| NM_206933.4:c.14803C>A MANE Select | NP_996816.3:p.Arg4935= |