Linked Data
dbSNP Id:
rs769641770
ExAC:
1:214795593 C / T
gnomAD v2:
1-214795593-C-T
gnomAD v4:
1-214622250-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.214622250C>T , CM000663.2:g.214622250C>T | GRCh38 |
| NC_000001.10:g.214795593C>T , CM000663.1:g.214795593C>T | GRCh37 |
| NC_000001.9:g.212862216C>T | NCBI36 |
| NG_046787.1:g.24072C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706764.1:n.1215C>T | ||
| ENST00000706765.1:c.1037C>T | ENSP00000516538.1:p.Thr346Ile | |
| ENST00000366955.8:c.1037C>T MANE Select | ENSP00000355922.3:p.Thr346Ile | |
| ENST00000366955.7:c.1037C>T | ENSP00000355922.3:p.Thr346Ile | |
| NM_016343.3:c.1037C>T | NP_057427.3:p.Thr346Ile | |
| XM_011509082.1:c.1037C>T | XP_011507384.1:p.Thr346Ile | |
| XM_011509082.3:c.1037C>T | XP_011507384.1:p.Thr346Ile | |
| XM_017000086.2:c.1037C>T | XP_016855575.1:p.Thr346Ile | |
| NM_016343.4:c.1037C>T MANE Select | NP_057427.3:p.Thr346Ile |