Linked Data
ClinVar Variation Id:
923274
ClinVar RCV Id:
RCV001183848
dbSNP Id:
rs763490270
MyVariant Identifiers:
chr15:g.48737634C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48445437C>G , CM000677.2:g.48445437C>G | GRCh38 |
| NC_000015.9:g.48737634C>G , CM000677.1:g.48737634C>G | GRCh37 |
| NC_000015.8:g.46524926C>G | NCBI36 |
| NG_008805.2:g.205352G>C , LRG_778:g.205352G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.5856G>C | ENSP00000453958.2:p.Gly1952= | |
| ENST00000674301.2:c.5856G>C | ENSP00000501333.2:p.Gly1952= | |
| ENST00000684448.1:n.4530G>C | ||
| ENST00000316623.10:c.5856G>C MANE Select | ENSP00000325527.5:p.Gly1952= | |
| ENST00000674301.1:c.855G>C | ENSP00000501333.1:p.Gly285= | |
| ENST00000316623.9:c.5856G>C | ENSP00000325527.5:p.Gly1952= | |
| ENST00000537463.6:c.*1619G>C | ENSP00000440294.2:n.*1619G>C | |
| ENST00000559133.5:c.1163G>C | ||
| NM_000138.4:c.5856G>C , LRG_778t1:c.5856G>C | NP_000129.3:p.Gly1952= | |
| NM_000138.5:c.5856G>C MANE Select | NP_000129.3:p.Gly1952= |