Linked Data
ClinVar Variation Id:
2112927
ClinVar RCV Id:
RCV003038516
dbSNP Id:
rs375181377
gnomAD v3:
15-48537693-G-A
gnomAD v4:
15-48537693-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48537693G>A , CM000677.2:g.48537693G>A | GRCh38 |
| NC_000015.9:g.48829890G>A , CM000677.1:g.48829890G>A | GRCh37 |
| NC_000015.8:g.46617182G>A | NCBI36 |
| NG_008805.2:g.113096C>T , LRG_778:g.113096C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.654C>T | ENSP00000453958.2:p.Gly218= | |
| ENST00000674301.2:c.654C>T | ENSP00000501333.2:p.Gly218= | |
| ENST00000316623.10:c.654C>T MANE Select | ENSP00000325527.5:p.Gly218= | |
| ENST00000316623.9:c.654C>T | ENSP00000325527.5:p.Gly218= | |
| ENST00000537463.6:c.636+18C>T | ENSP00000440294.2:n.636+18C>T | |
| NM_000138.4:c.654C>T , LRG_778t1:c.654C>T | NP_000129.3:p.Gly218= | |
| NM_000138.5:c.654C>T MANE Select | NP_000129.3:p.Gly218= |