Linked Data
dbSNP Id:
rs941904378
gnomAD v2:
5-52954549-T-G
gnomAD v3:
5-53658719-T-G
gnomAD v4:
5-53658719-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.53658719T>G , CM000667.2:g.53658719T>G | GRCh38 |
| NC_000005.9:g.52954549T>G , CM000667.1:g.52954549T>G | GRCh37 |
| NC_000005.8:g.52990306T>G | NCBI36 |
| NG_008200.1:g.103085T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296684.10:c.424+95T>G MANE Select | ENSP00000296684.5:n.424+95T>G | |
| ENST00000296684.9:c.424+95T>G | ENSP00000296684.5:n.424+95T>G | |
| ENST00000502423.5:c.*291+95T>G | ENSP00000422177.1:n.*291+95T>G | |
| ENST00000506765.1:c.338+12314T>G | ENSP00000424570.1:n.338+12314T>G | |
| ENST00000506974.5:c.*200+95T>G | ENSP00000425967.1:n.*200+95T>G | |
| ENST00000507026.5:c.*398+95T>G | ENSP00000424993.1:n.*398+95T>G | |
| ENST00000509443.1:n.380T>G | ||
| NM_002495.2:c.424+95T>G | NP_002486.1:n.424+95T>G | |
| XM_005248525.3:c.350+12314T>G | XP_005248582.1:n.350+12314T>G | |
| XM_011543415.1:c.250+95T>G | XP_011541717.1:n.250+95T>G | |
| NM_001318051.1:c.350+12314T>G | NP_001304980.1:n.350+12314T>G | |
| NM_002495.3:c.424+95T>G | NP_002486.1:n.424+95T>G | |
| NR_134473.1:n.626+95T>G | ||
| NR_134474.1:n.543+95T>G | ||
| NR_134475.1:n.578+95T>G | ||
| NM_002495.4:c.424+95T>G MANE Select | NP_002486.1:n.424+95T>G | |
| NM_001318051.2:c.350+12314T>G | NP_001304980.1:n.350+12314T>G | |
| NR_134473.2:n.620+95T>G | ||
| NR_134474.2:n.537+95T>G | ||
| NR_134475.2:n.572+95T>G |