Linked Data
ClinVar Variation Id:
2926780
ClinVar RCV Id:
RCV003789018
dbSNP Id:
rs763490270
ExAC:
15:48737634 C / A
gnomAD v2:
15-48737634-C-A
gnomAD v4:
15-48445437-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48445437C>A , CM000677.2:g.48445437C>A | GRCh38 |
| NC_000015.9:g.48737634C>A , CM000677.1:g.48737634C>A | GRCh37 |
| NC_000015.8:g.46524926C>A | NCBI36 |
| NG_008805.2:g.205352G>T , LRG_778:g.205352G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.5856G>T | ENSP00000453958.2:p.Gly1952= | |
| ENST00000674301.2:c.5856G>T | ENSP00000501333.2:p.Gly1952= | |
| ENST00000684448.1:n.4530G>T | ||
| ENST00000316623.10:c.5856G>T MANE Select | ENSP00000325527.5:p.Gly1952= | |
| ENST00000674301.1:c.855G>T | ENSP00000501333.1:p.Gly285= | |
| ENST00000316623.9:c.5856G>T | ENSP00000325527.5:p.Gly1952= | |
| ENST00000537463.6:c.*1619G>T | ENSP00000440294.2:n.*1619G>T | |
| ENST00000559133.5:c.1163G>T | ||
| NM_000138.4:c.5856G>T , LRG_778t1:c.5856G>T | NP_000129.3:p.Gly1952= | |
| NM_000138.5:c.5856G>T MANE Select | NP_000129.3:p.Gly1952= |