dbSNP:
gnomAD v4:
Revel Score:
ENST00000520113 (MANE Select)
0.027
ENST00000353928
0.027
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114693436G>T , CM000663.2:g.114693436G>T | GRCh38 |
| NC_000001.10:g.115236057G>T , CM000663.1:g.115236057G>T | GRCh37 |
| NC_000001.9:g.115037580G>T | NCBI36 |
| NG_008012.1:g.7120C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.22+2014C>A | ENSP00000358551.4:n.22+2014C>A | |
| ENST00000520113.7:c.34C>A MANE Select | ENSP00000430075.3:p.Gln12Lys | |
| ENST00000637080.1:c.37+2001C>A | ENSP00000489753.1:n.37+2001C>A | |
| ENST00000369538.3:c.121+2014C>A | ENSP00000358551.3:n.121+2014C>A | |
| ENST00000520113.6:c.133C>A | ENSP00000430075.2:p.Gln45Lys | |
| NM_000036.2:c.133C>A | NP_000027.2:p.Gln45Lys | |
| NM_001172626.1:c.121+2014C>A | NP_001166097.1:n.121+2014C>A | |
| NM_000036.3:c.34C>A MANE Select | NP_000027.3:p.Gln12Lys | |
| NM_001172626.2:c.22+2014C>A | NP_001166097.2:n.22+2014C>A |