Linked Data
ClinVar Variation Id:
1244052
ClinVar RCV Id:
RCV001648318
dbSNP Id:
rs1153849
ExAC:
15:45695695 G / A
gnomAD v2:
15-45695695-G-A
gnomAD v3:
15-45403497-G-A
gnomAD v4:
15-45403497-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45403497G>A , CM000677.2:g.45403497G>A | GRCh38 |
| NC_000015.9:g.45695695G>A , CM000677.1:g.45695695G>A | GRCh37 |
| NC_000015.8:g.43482987G>A | NCBI36 |
| NG_011674.2:g.3821C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305560.11:c.1068G>A MANE Select | ENSP00000305494.6:p.Arg356= | |
| ENST00000305560.10:c.1068G>A | ENSP00000305494.6:p.Arg356= | |
| ENST00000531970.5:c.1068G>A | ENSP00000436823.1:p.Arg356= | |
| ENST00000559860.2:n.1128G>A | ||
| NM_024063.2:c.1068G>A | NP_076968.2:p.Arg356= | |
| NR_027635.1:n.1177G>A | ||
| XM_005254657.3:c.1068G>A | XP_005254714.1:p.Arg356= | |
| XR_243126.3:n.1225G>A | ||
| NM_001323640.1:c.1068G>A | NP_001310569.1:p.Arg356= | |
| NR_136645.1:n.1177G>A | ||
| NR_136646.1:n.1177G>A | ||
| NR_136647.1:n.1177G>A | ||
| NR_136648.1:n.1177G>A | ||
| XR_001751383.2:n.1110G>A | ||
| NM_024063.3:c.1068G>A MANE Select | NP_076968.2:p.Arg356= | |
| NR_027635.2:n.1162G>A | ||
| NR_136645.2:n.1162G>A | ||
| NR_136646.2:n.1162G>A | ||
| NR_136647.2:n.1162G>A | ||
| NR_136648.2:n.1162G>A | ||
| NM_001323640.2:c.1068G>A | NP_001310569.1:p.Arg356= |