Linked Data
dbSNP Id:
rs767991836
ExAC:
4:100239216 A / C
gnomAD v2:
4-100239216-A-C
gnomAD v4:
4-99318059-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99318059A>C , CM000666.2:g.99318059A>C | GRCh38 |
| NC_000004.11:g.100239216A>C , CM000666.1:g.100239216A>C | GRCh37 |
| NC_000004.10:g.100458239A>C | NCBI36 |
| NG_011435.1:g.8357T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305046.13:c.246T>G MANE Select | ENSP00000306606.8:p.Thr82= | |
| ENST00000639454.1:c.246T>G | ENSP00000491622.1:p.Thr82= | |
| ENST00000305046.12:c.246T>G | ENSP00000306606.8:p.Thr82= | |
| ENST00000504498.1:n.300T>G | ||
| ENST00000506651.5:c.126T>G | ENSP00000425998.2:p.Thr42= | |
| ENST00000515694.4:n.2341T>G | ||
| ENST00000625860.2:c.126T>G | ENSP00000486614.1:p.Thr42= | |
| ENST00000632775.1:n.809T>G | ||
| NM_000668.5:c.246T>G | NP_000659.2:p.Thr82= | |
| NM_001286650.1:c.126T>G | NP_001273579.1:p.Thr42= | |
| NM_000668.6:c.246T>G MANE Select | NP_000659.2:p.Thr82= | |
| NM_001286650.2:c.126T>G | NP_001273579.1:p.Thr42= |