Linked Data
dbSNP Id:
rs761394795
ExAC:
2:176958352 C / T
gnomAD v2:
2-176958352-C-T
gnomAD v3:
2-176093624-C-T
gnomAD v4:
2-176093624-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176093624C>T , CM000664.2:g.176093624C>T | GRCh38 |
| NC_000002.11:g.176958352C>T , CM000664.1:g.176958352C>T | GRCh37 |
| NC_000002.10:g.176666598C>T | NCBI36 |
| NG_008137.1:g.5821C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392539.4:c.734C>T MANE Select | ENSP00000376322.3:p.Thr245Ile | |
| ENST00000392539.3:c.734C>T | ENSP00000376322.3:p.Thr245Ile | |
| NM_000523.3:c.734C>T | NP_000514.2:p.Thr245Ile | |
| XM_011511068.1:c.725-856C>T | XP_011509370.1:n.725-856C>T | |
| XM_011511068.2:c.725-856C>T | XP_011509370.1:n.725-856C>T | |
| NM_000523.4:c.734C>T MANE Select | NP_000514.2:p.Thr245Ile |