Linked Data
dbSNP Id:
rs140468943
ExAC:
22:50307356 C / A
gnomAD v2:
22-50307356-C-A
gnomAD v4:
22-49913708-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.49913708C>A , CM000684.2:g.49913708C>A | GRCh38 |
| NC_000022.10:g.50307356C>A , CM000684.1:g.50307356C>A | GRCh37 |
| NC_000022.9:g.48693360C>A | NCBI36 |
| NG_008927.1:g.9751G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330817.11:c.58G>T MANE Select | ENSP00000333813.5:p.Val20Leu | |
| ENST00000330817.10:c.58G>T | ENSP00000333813.5:p.Val20Leu | |
| NM_024105.3:c.58G>T | NP_077010.1:p.Val20Leu | |
| XM_011530369.1:c.58G>T | XP_011528671.1:p.Val20Leu | |
| XM_011530370.1:c.58G>T | XP_011528672.1:p.Val20Leu | |
| XM_011530371.1:c.58G>T | XP_011528673.1:p.Val20Leu | |
| XM_011530371.2:c.58G>T | XP_011528673.1:p.Val20Leu | |
| XM_017028936.1:c.58G>T | XP_016884425.1:p.Val20Leu | |
| XM_017028937.1:c.58G>T | XP_016884426.1:p.Val20Leu | |
| NM_024105.4:c.58G>T MANE Select | NP_077010.1:p.Val20Leu |