Linked Data
dbSNP Id:
rs371614143
ExAC:
5:125882137 G / A
gnomAD v2:
5-125882137-G-A
gnomAD v3:
5-126546445-G-A
gnomAD v4:
5-126546445-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126546445G>A , CM000667.2:g.126546445G>A | GRCh38 |
| NC_000005.9:g.125882137G>A , CM000667.1:g.125882137G>A | GRCh37 |
| NC_000005.8:g.125910036G>A | NCBI36 |
| NG_008600.2:g.53946C>T | |
| NG_008600.3:g.53946C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.1490-46C>T MANE Select | ENSP00000387123.3:n.1490-46C>T | |
| ENST00000458249.6:c.*1399-46C>T | ENSP00000403929.1:n.*1399-46C>T | |
| ENST00000485852.7:n.237-46C>T | ||
| ENST00000497231.7:n.1917-46C>T | ||
| ENST00000635851.1:c.1488-46C>T | ||
| ENST00000636225.1:c.*1434-46C>T | ENSP00000490797.1:n.*1434-46C>T | |
| ENST00000636286.1:n.1255-46C>T | ||
| ENST00000636482.1:n.1024-46C>T | ||
| ENST00000636743.1:c.1370-46C>T | ENSP00000489725.1:n.1370-46C>T | |
| ENST00000636808.1:c.*1299-46C>T | ENSP00000490833.1:n.*1299-46C>T | |
| ENST00000636872.1:c.1650-46C>T | ENSP00000490919.1:n.1650-46C>T | |
| ENST00000636879.1:c.1535-46C>T | ENSP00000490811.1:n.1535-46C>T | |
| ENST00000636886.1:c.1289-46C>T | ENSP00000490371.1:n.1289-46C>T | |
| ENST00000637206.1:c.1310-46C>T | ENSP00000489895.1:n.1310-46C>T | |
| ENST00000637272.1:c.1481-46C>T | ENSP00000489686.1:n.1481-46C>T | |
| ENST00000637292.1:c.946-46C>T | ||
| ENST00000637782.1:c.1490-46C>T | ENSP00000490024.1:n.1490-46C>T | |
| ENST00000638008.1:c.*1334-46C>T | ENSP00000490400.1:n.*1334-46C>T | |
| ENST00000638010.1:n.1436-46C>T | ||
| ENST00000409134.7:c.1490-46C>T | ENSP00000387123.3:n.1490-46C>T | |
| ENST00000447989.6:c.1379-46C>T | ENSP00000414132.2:n.1379-46C>T | |
| ENST00000485852.6:n.237-46C>T | ||
| ENST00000497231.6:n.1700-46C>T | ||
| ENST00000553117.5:c.1298-46C>T | ENSP00000448593.1:n.1298-46C>T | |
| NM_001182.4:c.1490-46C>T | NP_001173.2:n.1490-46C>T | |
| NM_001201377.1:c.1406-46C>T | NP_001188306.1:n.1406-46C>T | |
| NM_001202404.1:c.1379-46C>T | NP_001189333.1:n.1379-46C>T | |
| XM_011543417.1:c.1085-46C>T | XP_011541719.1:n.1085-46C>T | |
| XM_011543417.2:c.1085-46C>T | XP_011541719.1:n.1085-46C>T | |
| NM_001182.5:c.1490-46C>T MANE Select | NP_001173.2:n.1490-46C>T | |
| NM_001201377.2:c.1406-46C>T | NP_001188306.1:n.1406-46C>T | |
| NM_001202404.2:c.1298-46C>T | NP_001189333.2:n.1298-46C>T |