Linked Data
ClinVar Variation Id:
315734
ClinVar RCV Id:
RCV000379923
dbSNP Id:
rs200142785
gnomAD v4:
15-38339878-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38339878C>A , CM000677.2:g.38339878C>A | GRCh38 |
| NC_000015.9:g.38632079C>A , CM000677.1:g.38632079C>A | GRCh37 |
| NC_000015.8:g.36419371C>A | NCBI36 |
| NG_008980.1:g.92028C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299084.9:c.565C>A MANE Select | ENSP00000299084.4:p.Gln189Lys | |
| ENST00000299084.8:c.565C>A | ENSP00000299084.4:p.Gln189Lys | |
| NM_152594.2:c.565C>A | NP_689807.1:p.Gln189Lys | |
| XM_005254202.2:c.601C>A | XP_005254259.1:p.Gln201Lys | |
| XM_005254203.3:c.343C>A | XP_005254260.1:p.Gln115Lys | |
| XM_011521288.1:c.502C>A | XP_011519590.1:p.Gln168Lys | |
| XM_011521289.1:c.502C>A | XP_011519591.1:p.Gln168Lys | |
| XM_011521290.1:c.502C>A | XP_011519592.1:p.Gln168Lys | |
| XM_005254202.3:c.601C>A | XP_005254259.1:p.Gln201Lys | |
| XM_011521289.3:c.502C>A | XP_011519591.1:p.Gln168Lys | |
| NM_152594.3:c.565C>A MANE Select | NP_689807.1:p.Gln189Lys |