gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109923716C>T , CM000663.2:g.109923716C>T | GRCh38 |
| NC_000001.10:g.110466338C>T , CM000663.1:g.110466338C>T | GRCh37 |
| NC_000001.9:g.110267861C>T | NCBI36 |
| NG_030008.1:g.18106C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329608.11:c.1095C>T MANE Select | ENSP00000327513.6:p.Thr365= | |
| ENST00000329608.10:c.1095C>T | ENSP00000327513.6:p.Thr365= | |
| ENST00000369801.1:c.1090+5C>T | ENSP00000358816.1:n.1090+5C>T | |
| ENST00000369802.7:c.1095C>T | ENSP00000358817.3:p.Thr365= | |
| ENST00000420111.6:c.545-344C>T | ENSP00000407317.2:n.545-344C>T | |
| NM_000757.5:c.1095C>T | NP_000748.3:p.Thr365= | |
| NM_172210.2:c.1090+5C>T | NP_757349.1:n.1090+5C>T | |
| NM_172211.3:c.545-344C>T | NP_757350.1:n.545-344C>T | |
| NM_172212.2:c.1095C>T | NP_757351.1:p.Thr365= | |
| XM_017000369.1:c.972C>T | XP_016855858.1:p.Thr324= | |
| NM_000757.6:c.1095C>T MANE Select | NP_000748.4:p.Thr365= | |
| NM_172210.3:c.1090+5C>T | NP_757349.2:n.1090+5C>T | |
| NM_172211.4:c.545-344C>T | NP_757350.2:n.545-344C>T | |
| NM_172212.3:c.1095C>T | NP_757351.2:p.Thr365= |