Linked Data
ClinVar Variation Id:
317998
dbSNP Id:
rs79494390
ExAC:
16:1570262 A / G
gnomAD v2:
16-1570262-A-G
gnomAD v3:
16-1520261-A-G
gnomAD v4:
16-1520261-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1520261A>G , CM000678.2:g.1520261A>G | GRCh38 |
| NC_000016.9:g.1570262A>G , CM000678.1:g.1570262A>G | GRCh37 |
| NC_000016.8:g.1510263A>G | NCBI36 |
| NG_032783.1:g.96848T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000426508.7:c.3743T>C MANE Select | ENSP00000406012.2:p.Ile1248Thr | |
| ENST00000361339.9:c.1325T>C | ENSP00000354895.5:p.Ile442Thr | |
| ENST00000397417.6:c.*2181T>C | ENSP00000380562.2:n.*2181T>C | |
| ENST00000426508.6:c.3743T>C | ENSP00000406012.2:p.Ile1248Thr | |
| ENST00000565298.5:n.3567T>C | ||
| NM_014714.3:c.3743T>C | NP_055529.2:p.Ile1248Thr | |
| XM_006720989.2:c.3743T>C | XP_006721052.1:p.Ile1248Thr | |
| XM_006720990.2:c.3743T>C | XP_006721053.1:p.Ile1248Thr | |
| XM_006720991.2:c.3743T>C | XP_006721054.1:p.Ile1248Thr | |
| XM_006720992.2:c.1376T>C | XP_006721055.1:p.Ile459Thr | |
| XM_011522766.1:c.3497T>C | XP_011521068.1:p.Ile1166Thr | |
| XM_011522767.1:c.2768T>C | XP_011521069.1:p.Ile923Thr | |
| XM_006720990.3:c.3743T>C | XP_006721053.1:p.Ile1248Thr | |
| XM_006720991.3:c.3743T>C | XP_006721054.1:p.Ile1248Thr | |
| XM_006720992.3:c.1376T>C | XP_006721055.1:p.Ile459Thr | |
| XM_011522766.3:c.3497T>C | XP_011521068.1:p.Ile1166Thr | |
| XM_011522767.2:c.2768T>C | XP_011521069.1:p.Ile923Thr | |
| XM_017023910.1:c.3743T>C | XP_016879399.1:p.Ile1248Thr | |
| XM_017023911.1:c.1928T>C | XP_016879400.1:p.Ile643Thr | |
| NM_014714.4:c.3743T>C MANE Select | NP_055529.2:p.Ile1248Thr |