gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00044434 (NFE)
Genomes Max Group AF
0.00029252 (NFE)
Exomes Max Group AF
0.00044724 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31190053C>T , CM000678.2:g.31190053C>T | GRCh38 |
| NC_000016.9:g.31201374C>T , CM000678.1:g.31201374C>T | GRCh37 |
| NC_000016.8:g.31108875C>T | NCBI36 |
| NG_012889.2:g.14922C>T , LRG_655:g.14922C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254108.12:c.1080C>T MANE Select | ENSP00000254108.8:p.Ser360= | |
| ENST00000254108.11:c.1080C>T | ENSP00000254108.7:p.Ser360= | |
| ENST00000380244.7:c.1077C>T | ENSP00000369594.3:p.Ser359= | |
| ENST00000474990.5:n.374C>T | ||
| ENST00000487509.6:n.4255C>T | ||
| ENST00000566605.5:c.*253C>T | ENSP00000455073.1:n.*253C>T | |
| ENST00000568685.1:c.1083C>T | ENSP00000455282.1:p.Ser361= | |
| ENST00000568901.2:n.454C>T | ||
| NM_001170634.1:c.1077C>T | NP_001164105.1:p.Ser359= | |
| NM_001170937.1:c.1068C>T | NP_001164408.1:p.Ser356= | |
| NM_004960.3:c.1080C>T , LRG_655t1:c.1080C>T | NP_004951.1:p.Ser360= | |
| NR_028388.2:n.1150C>T | ||
| XM_005255233.3:c.465C>T | XP_005255290.1:p.Ser155= | |
| XM_011545781.1:c.1074C>T | XP_011544083.1:p.Ser358= | |
| XM_011545782.1:c.465C>T | XP_011544084.1:p.Ser155= | |
| XM_005255233.5:c.465C>T | XP_005255290.1:p.Ser155= | |
| XM_011545782.2:c.465C>T | XP_011544084.1:p.Ser155= | |
| XM_024450221.1:c.1071C>T | XP_024305989.1:p.Ser357= | |
| NM_004960.4:c.1080C>T MANE Select | NP_004951.1:p.Ser360= |