gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000292 (NFE)
Exomes Max Group AF
0.00000309 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.25231617C>T , CM000684.2:g.25231617C>T | GRCh38 |
| NC_000022.10:g.25627584C>T , CM000684.1:g.25627584C>T | GRCh37 |
| NC_000022.9:g.23957584C>T | NCBI36 |
| NG_009827.1:g.16973C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398215.3:c.463C>T MANE Select | ENSP00000381273.2:p.Gln155Ter | |
| ENST00000651629.1:c.463C>T | ENSP00000498905.1:p.Gln155Ter | |
| ENST00000398215.2:c.463C>T | ENSP00000381273.2:p.Gln155Ter | |
| NM_000496.2:c.463C>T | NP_000487.1:p.Gln155Ter | |
| XM_006724141.2:c.463C>T | XP_006724204.1:p.Gln155Ter | |
| XM_011529900.1:c.463C>T | XP_011528202.1:p.Gln155Ter | |
| XM_011529901.1:c.463C>T | XP_011528203.1:p.Gln155Ter | |
| XM_006724141.3:c.463C>T | XP_006724204.1:p.Gln155Ter | |
| XM_011529900.2:c.463C>T | XP_011528202.1:p.Gln155Ter | |
| NM_000496.3:c.463C>T MANE Select | NP_000487.1:p.Gln155Ter |