Linked Data
ClinVar Variation Id:
374918
ClinVar RCV Id:
RCV000415534
dbSNP Id:
rs1057519305
gnomAD v4:
15-41816937-G-A
PubMed:
PMID:28089251
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.41816937G>A , CM000677.2:g.41816937G>A | GRCh38 |
| NC_000015.9:g.42109135G>A , CM000677.1:g.42109135G>A | GRCh37 |
| NC_000015.8:g.39896427G>A | NCBI36 |
| NG_054745.1:g.47504G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000457542.7:c.1613G>A MANE Select | ENSP00000397570.2:p.Arg538Gln | |
| ENST00000456763.6:c.1631G>A | ENSP00000393099.2:p.Arg544Gln | |
| ENST00000457542.6:c.1613G>A | ENSP00000397570.2:p.Arg538Gln | |
| ENST00000503526.1:n.400G>A | ||
| ENST00000505061.5:n.2061G>A | ||
| ENST00000505373.5:c.*1164G>A | ENSP00000421891.1:n.*1164G>A | |
| ENST00000512970.5:c.*427G>A | ENSP00000427582.1:n.*427G>A | |
| ENST00000514566.5:c.1613G>A | ENSP00000426154.1:p.Arg538Gln | |
| NM_001128608.1:c.1631G>A | NP_001122080.1:p.Arg544Gln | |
| NM_001265611.1:c.1613G>A | NP_001252540.1:p.Arg538Gln | |
| NM_014994.2:c.1613G>A | NP_055809.2:p.Arg538Gln | |
| NR_049761.1:n.1709G>A | ||
| NR_049762.1:n.1660G>A | ||
| XM_006720438.1:c.1466G>A | XP_006720501.1:p.Arg489Gln | |
| XM_011521382.1:c.1631G>A | XP_011519684.1:p.Arg544Gln | |
| XM_011521383.1:c.1484G>A | XP_011519685.1:p.Arg495Gln | |
| XM_011521384.1:c.1631G>A | XP_011519686.1:p.Arg544Gln | |
| XM_011521385.1:c.1631G>A | XP_011519687.1:p.Arg544Gln | |
| XM_006720438.2:c.1466G>A | XP_006720501.1:p.Arg489Gln | |
| XM_011521383.2:c.1484G>A | XP_011519685.1:p.Arg495Gln | |
| XM_011521384.3:c.1631G>A | XP_011519686.1:p.Arg544Gln | |
| XM_017022017.1:c.1484G>A | XP_016877506.1:p.Arg495Gln | |
| XR_001751156.2:n.1879G>A | ||
| XR_001751157.2:n.1879G>A | ||
| XR_001751159.2:n.1879G>A | ||
| NM_014994.3:c.1613G>A MANE Select | NP_055809.2:p.Arg538Gln | |
| NM_001128608.2:c.1631G>A | NP_001122080.1:p.Arg544Gln | |
| NM_001265611.2:c.1613G>A | NP_001252540.1:p.Arg538Gln | |
| NR_049761.2:n.1659G>A | ||
| NR_049762.2:n.1610G>A |