Linked Data
ClinVar Variation Id:
375299
ClinVar RCV Id:
RCV000416355
dbSNP Id:
rs1057519320
gnomAD v4:
15-48444574-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48444574G>A , CM000677.2:g.48444574G>A | GRCh38 |
| NC_000015.9:g.48736771G>A , CM000677.1:g.48736771G>A | GRCh37 |
| NC_000015.8:g.46524063G>A | NCBI36 |
| NG_008805.2:g.206215C>T , LRG_778:g.206215C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000559133.6:c.6004C>T | ENSP00000453958.2:p.Pro2002Ser | |
| ENST00000674301.2:c.6004C>T | ENSP00000501333.2:p.Pro2002Ser | |
| ENST00000684448.1:n.4678C>T | ||
| ENST00000316623.10:c.6004C>T MANE Select | ENSP00000325527.5:p.Pro2002Ser | |
| ENST00000674301.1:c.1003C>T | ENSP00000501333.1:p.Pro335Ser | |
| ENST00000316623.9:c.6004C>T | ENSP00000325527.5:p.Pro2002Ser | |
| ENST00000537463.6:c.*1767C>T | ENSP00000440294.2:n.*1767C>T | |
| ENST00000559133.5:c.1311C>T | ||
| ENST00000560820.1:n.124C>T | ||
| NM_000138.4:c.6004C>T , LRG_778t1:c.6004C>T | NP_000129.3:p.Pro2002Ser | |
| NM_000138.5:c.6004C>T MANE Select | NP_000129.3:p.Pro2002Ser |