ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001425 (SAS)
Exomes Max Group AF
0.00001583 (SAS)
Revel Score:
ENST00000252826 (MANE Select)
0.254
ENST00000427978
0.254
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49168301C>T , CM000681.2:g.49168301C>T | GRCh38 |
| NC_000019.9:g.49671558C>T , CM000681.1:g.49671558C>T | GRCh37 |
| NC_000019.8:g.54363370C>T | NCBI36 |
| NG_027551.1:g.15543C>T | |
| NG_027551.2:g.15543C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252826.10:c.490C>T MANE Select | ENSP00000252826.4:p.Arg164Trp | |
| ENST00000252826.9:c.490C>T | ENSP00000252826.4:p.Arg164Trp | |
| ENST00000427978.6:c.490C>T | ENSP00000407492.1:p.Arg164Trp | |
| ENST00000594568.1:n.496C>T | ||
| ENST00000595519.5:c.134C>T | ENSP00000469893.1:p.Pro45Leu | |
| ENST00000596338.5:n.525C>T | ||
| ENST00000598502.5:c.309C>T | ENSP00000470229.1:p.Ala103= | |
| ENST00000598691.5:c.268-252C>T | ENSP00000473231.1:n.268-252C>T | |
| ENST00000598697.5:c.93-252C>T | ENSP00000468989.1:n.93-252C>T | |
| NM_001195227.1:c.490C>T | NP_001182156.1:p.Arg164Trp | |
| NM_017636.3:c.490C>T | NP_060106.2:p.Arg164Trp | |
| XM_011527046.1:c.-33C>T | XP_011525348.1:n.-33C>T | |
| NM_001321281.1:c.268-252C>T | NP_001308210.1:n.268-252C>T | |
| NM_001321282.1:c.-1064C>T | NP_001308211.1:n.-1064C>T | |
| NM_001321283.1:c.-33C>T | NP_001308212.1:n.-33C>T | |
| NM_001321285.1:c.-237-252C>T | NP_001308214.1:n.-237-252C>T | |
| NM_017636.4:c.490C>T MANE Select | NP_060106.2:p.Arg164Trp | |
| NM_001195227.2:c.490C>T | NP_001182156.1:p.Arg164Trp | |
| NM_001321281.2:c.268-252C>T | NP_001308210.1:n.268-252C>T | |
| NM_001321282.2:c.-1064C>T | NP_001308211.1:n.-1064C>T | |
| NM_001321283.2:c.-33C>T | NP_001308212.1:n.-33C>T | |
| NM_001321285.2:c.-237-252C>T | NP_001308214.1:n.-237-252C>T |