Linked Data
dbSNP Id:
rs751140851
ExAC:
3:191093055 T / C
gnomAD v2:
3-191093055-T-C
gnomAD v4:
3-191375266-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.191375266T>C , CM000665.2:g.191375266T>C | GRCh38 |
| NC_000003.11:g.191093055T>C , CM000665.1:g.191093055T>C | GRCh37 |
| NC_000003.10:g.192575749T>C | NCBI36 |
| NG_008994.1:g.51182T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392455.9:c.653T>C MANE Select | ENSP00000376249.4:p.Ile218Thr | |
| ENST00000392456.4:c.449-4893T>C | ENSP00000376250.4:n.449-4893T>C | |
| ENST00000392455.7:c.449-4893T>C | ENSP00000376249.3:n.449-4893T>C | |
| ENST00000392456.3:c.653T>C | ENSP00000376250.3:p.Ile218Thr | |
| NM_174908.3:c.449-4893T>C | NP_777568.1:n.449-4893T>C | |
| NM_178335.2:c.653T>C | NP_848018.1:p.Ile218Thr | |
| XM_011512460.1:c.653T>C | XP_011510762.1:p.Ile218Thr | |
| NM_178335.3:c.653T>C MANE Select | NP_848018.1:p.Ile218Thr | |
| NM_174908.4:c.449-4893T>C | NP_777568.1:n.449-4893T>C |