gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003234 (AMR)
Exomes Max Group AF
0.00002986 (AMR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10623108C>T , CM000663.2:g.10623108C>T | GRCh38 |
| NC_000001.10:g.10683165C>T , CM000663.1:g.10683165C>T | GRCh37 |
| NC_000001.9:g.10605752C>T | NCBI36 |
| NG_008340.1:g.153163C>T | |
| NG_008340.2:g.153163C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356607.9:c.474C>T MANE Select | ENSP00000349016.4:p.Ser158= | |
| ENST00000356607.8:c.474C>T | ENSP00000349016.4:p.Ser158= | |
| ENST00000491661.2:c.459C>T | ENSP00000465473.1:p.Ser153= | |
| NM_004565.2:c.474C>T | NP_004556.1:p.Ser158= | |
| XM_005263470.3:c.282C>T | XP_005263527.1:p.Ser94= | |
| XM_011541577.1:c.516C>T | XP_011539879.1:p.Ser172= | |
| XM_011541578.1:c.417C>T | XP_011539880.1:p.Ser139= | |
| XM_011541579.1:c.387C>T | XP_011539881.1:p.Ser129= | |
| XM_011541580.1:c.345C>T | XP_011539882.1:p.Ser115= | |
| XM_005263470.5:c.282C>T | XP_005263527.1:p.Ser94= | |
| XM_011541577.2:c.516C>T | XP_011539879.1:p.Ser172= | |
| XM_011541578.2:c.417C>T | XP_011539880.1:p.Ser139= | |
| XM_011541579.3:c.387C>T | XP_011539881.1:p.Ser129= | |
| XM_024447651.1:c.282C>T | XP_024303419.1:p.Ser94= | |
| NM_004565.3:c.474C>T MANE Select | NP_004556.1:p.Ser158= |