ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000195 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48381253C>T , CM000675.2:g.48381253C>T | GRCh38 |
| NC_000013.10:g.48955389C>T , CM000675.1:g.48955389C>T | GRCh37 |
| NC_000013.9:g.47853390C>T | NCBI36 |
| NG_009009.1:g.82507C>T , LRG_517:g.82507C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.1505C>T MANE Select | ENSP00000267163.4:p.Thr502Ile | |
| ENST00000643064.1:c.4C>T | ||
| ENST00000650461.1:c.1505C>T | ENSP00000497193.1:p.Thr502Ile | |
| ENST00000267163.4:c.1505C>T | ENSP00000267163.4:p.Thr502Ile | |
| NM_000321.2:c.1505C>T , LRG_517t1:c.1505C>T | NP_000312.2:p.Thr502Ile | |
| XM_011535171.1:c.1244C>T | XP_011533473.1:p.Thr415Ile | |
| XM_011535171.2:c.1244C>T | XP_011533473.1:p.Thr415Ile | |
| NM_000321.3:c.1505C>T MANE Select | NP_000312.2:p.Thr502Ile |