Linked Data
ClinVar Variation Id:
760754
ClinVar RCV Id:
RCV000938739
dbSNP Id:
rs1571923733
MyVariant Identifiers:
chr1:g.215813979C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215640637C>T , CM000663.2:g.215640637C>T | GRCh38 |
| NC_000001.10:g.215813979C>T , CM000663.1:g.215813979C>T | GRCh37 |
| NC_000001.9:g.213880602C>T | NCBI36 |
| NG_009497.1:g.787760G>A | |
| NG_009497.2:g.787812G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.14889G>A MANE Select | ENSP00000305941.3:p.Glu4963= | |
| ENST00000674083.1:c.14889G>A | ENSP00000501296.1:p.Glu4963= | |
| ENST00000307340.7:c.14889G>A | ENSP00000305941.3:p.Glu4963= | |
| NM_206933.2:c.14889G>A | NP_996816.2:p.Glu4963= | |
| NM_206933.3:c.14889G>A | NP_996816.2:p.Glu4963= | |
| NM_206933.4:c.14889G>A MANE Select | NP_996816.3:p.Glu4963= |