Linked Data
ClinVar Variation Id:
1509245
ClinVar RCV Id:
RCV002017759
dbSNP Id:
rs779888121
ExAC:
22:50307281 G / T
gnomAD v2:
22-50307281-G-T
gnomAD v4:
22-49913633-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.49913633G>T , CM000684.2:g.49913633G>T | GRCh38 |
| NC_000022.10:g.50307281G>T , CM000684.1:g.50307281G>T | GRCh37 |
| NC_000022.9:g.48693285G>T | NCBI36 |
| NG_008927.1:g.9826C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330817.11:c.133C>A MANE Select | ENSP00000333813.5:p.Leu45Met | |
| ENST00000330817.10:c.133C>A | ENSP00000333813.5:p.Leu45Met | |
| NM_024105.3:c.133C>A | NP_077010.1:p.Leu45Met | |
| XM_011530369.1:c.133C>A | XP_011528671.1:p.Leu45Met | |
| XM_011530370.1:c.133C>A | XP_011528672.1:p.Leu45Met | |
| XM_011530371.1:c.133C>A | XP_011528673.1:p.Leu45Met | |
| XM_011530371.2:c.133C>A | XP_011528673.1:p.Leu45Met | |
| XM_017028936.1:c.133C>A | XP_016884425.1:p.Leu45Met | |
| XM_017028937.1:c.133C>A | XP_016884426.1:p.Leu45Met | |
| NM_024105.4:c.133C>A MANE Select | NP_077010.1:p.Leu45Met |