gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004182 (NFE)
Exomes Max Group AF
0.00004351 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.96193102G>A , CM000669.2:g.96193102G>A | GRCh38 |
| NC_000007.13:g.95822414G>A , CM000669.1:g.95822414G>A | GRCh37 |
| NC_000007.12:g.95660350G>A | NCBI36 |
| NG_012247.1:g.134046C>T | |
| NG_012247.2:g.134046C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265631.10:c.550C>T MANE Select | ENSP00000265631.6:p.Arg184Ter | |
| ENST00000265631.9:c.550C>T | ENSP00000265631.5:p.Arg184Ter | |
| ENST00000416240.6:c.550C>T | ENSP00000400101.2:p.Arg184Ter | |
| NM_001160210.1:c.550C>T | NP_001153682.1:p.Arg184Ter | |
| NM_014251.2:c.550C>T | NP_055066.1:p.Arg184Ter | |
| NR_027662.1:n.625C>T | ||
| XM_006715831.2:c.583C>T | XP_006715894.1:p.Arg195Ter | |
| XM_011515727.1:c.583C>T | XP_011514029.1:p.Arg195Ter | |
| XM_006715831.4:c.583C>T | XP_006715894.1:p.Arg195Ter | |
| XM_011515727.3:c.583C>T | XP_011514029.1:p.Arg195Ter | |
| XM_017011663.1:c.541C>T | XP_016867152.1:p.Arg181Ter | |
| XM_017011664.2:c.-209C>T | XP_016867153.1:n.-209C>T | |
| XM_017011665.1:c.-209C>T | XP_016867154.1:n.-209C>T | |
| XR_001744525.2:n.721C>T | ||
| XR_002956405.1:n.863C>T | ||
| NM_014251.3:c.550C>T MANE Select | NP_055066.1:p.Arg184Ter | |
| NR_027662.2:n.576C>T | ||
| NM_001160210.2:c.550C>T | NP_001153682.1:p.Arg184Ter |