Linked Data
dbSNP Id:
rs757983939
ExAC:
19:36223935 C / T
gnomAD v2:
19-36223935-C-T
gnomAD v3:
19-35733034-C-T
gnomAD v4:
19-35733034-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35733034C>T , CM000681.2:g.35733034C>T | GRCh38 |
| NC_000019.9:g.36223935C>T , CM000681.1:g.36223935C>T | GRCh37 |
| NC_000019.8:g.40915775C>T | NCBI36 |
| NG_052906.1:g.20016C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592092.2:n.791C>T | ||
| ENST00000673918.2:c.6419C>T | ENSP00000501283.1:p.Thr2140Ile | |
| ENST00000674114.2:c.4026C>T | ENSP00000501039.2:n.4026C>T | |
| ENST00000684977.1:c.1703C>T | ENSP00000509384.1:p.Thr568Ile | |
| ENST00000689544.1:n.1638C>T | ||
| ENST00000691421.1:c.1706C>T | ENSP00000508674.1:p.Thr569Ile | |
| ENST00000691855.1:c.6027C>T | ||
| ENST00000692961.1:c.6485C>T | ENSP00000509289.1:p.Thr2162Ile | |
| ENST00000693677.1:c.705-563C>T | ENSP00000509779.1:n.705-563C>T | |
| ENST00000420124.4:c.6485C>T MANE Select | ENSP00000398837.2:p.Thr2162Ile | |
| ENST00000673918.1:c.6419C>T | ENSP00000501283.1:p.Thr2140Ile | |
| ENST00000674114.1:c.3807C>T | ||
| ENST00000420124.2:c.6485C>T | ENSP00000398837.1:p.Thr2162Ile | |
| NM_014727.2:c.6485C>T | NP_055542.1:p.Thr2162Ile | |
| XM_011527561.1:c.6419C>T | XP_011525863.1:p.Thr2140Ile | |
| XM_011527562.1:c.6485C>T | XP_011525864.1:p.Thr2162Ile | |
| XM_011527563.1:c.6209C>T | XP_011525865.1:p.Thr2070Ile | |
| XM_011527561.2:c.5921C>T | XP_011525863.2:p.Thr1974Ile | |
| XM_011527562.2:c.6485C>T | XP_011525864.1:p.Thr2162Ile | |
| XM_017027544.1:c.6485C>T | XP_016883033.1:p.Thr2162Ile | |
| XM_017027545.1:c.5921C>T | XP_016883034.1:p.Thr1974Ile | |
| XM_017027546.1:c.3449C>T | XP_016883035.1:p.Thr1150Ile | |
| NM_014727.3:c.6485C>T MANE Select | NP_055542.1:p.Thr2162Ile |