Linked Data
dbSNP Id:
rs758360399
ExAC:
8:100880634 T / C
gnomAD v2:
8-100880634-T-C
gnomAD v3:
8-99868406-T-C
gnomAD v4:
8-99868406-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99868406T>C , CM000670.2:g.99868406T>C | GRCh38 |
| NC_000008.10:g.100880634T>C , CM000670.1:g.100880634T>C | GRCh37 |
| NC_000008.9:g.100949810T>C | NCBI36 |
| NG_007098.2:g.860141T>C , LRG_351:g.860141T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.*502T>C | ENSP00000507923.1:n.*502T>C | |
| ENST00000682358.1:n.11478T>C | ||
| ENST00000683334.1:c.*7090T>C | ENSP00000507369.1:n.*7090T>C | |
| ENST00000357162.7:c.11333T>C MANE Select | ENSP00000349685.2:p.Met3778Thr | |
| ENST00000358544.7:c.11408T>C MANE Plus Clinical | ENSP00000351346.2:p.Met3803Thr | |
| ENST00000357162.6:c.11333T>C | ENSP00000349685.2:p.Met3778Thr | |
| ENST00000358544.6:c.11408T>C | ENSP00000351346.2:p.Met3803Thr | |
| ENST00000493587.1:n.350T>C | ||
| NM_017890.4:c.11408T>C , LRG_351t1:c.11408T>C | NP_060360.3:p.Met3803Thr | |
| NM_152564.4:c.11333T>C , LRG_351t2:c.11333T>C | NP_689777.3:p.Met3778Thr | |
| XM_005250800.2:c.11408T>C | XP_005250857.1:p.Met3803Thr | |
| XM_005250801.3:c.11408T>C | XP_005250858.1:p.Met3803Thr | |
| XM_011516848.1:c.11405T>C | XP_011515150.1:p.Met3802Thr | |
| XM_011516849.1:c.11330T>C | XP_011515151.1:p.Met3777Thr | |
| XM_011516850.1:c.11030T>C | XP_011515152.1:p.Met3677Thr | |
| XM_011516851.1:c.8294T>C | XP_011515153.1:p.Met2765Thr | |
| XM_011516852.1:c.8294T>C | XP_011515154.1:p.Met2765Thr | |
| XM_011516854.1:c.7187T>C | XP_011515156.1:p.Met2396Thr | |
| XM_005250800.3:c.11408T>C | XP_005250857.1:p.Met3803Thr | |
| XM_005250801.5:c.11408T>C | XP_005250858.1:p.Met3803Thr | |
| XM_011516848.2:c.11405T>C | XP_011515150.1:p.Met3802Thr | |
| XM_011516849.2:c.11330T>C | XP_011515151.1:p.Met3777Thr | |
| XM_011516850.2:c.11030T>C | XP_011515152.1:p.Met3677Thr | |
| XM_011516851.2:c.8294T>C | XP_011515153.1:p.Met2765Thr | |
| XM_011516852.2:c.8294T>C | XP_011515154.1:p.Met2765Thr | |
| XM_011516854.2:c.7187T>C | XP_011515156.1:p.Met2396Thr | |
| XM_017013109.1:c.11213T>C | XP_016868598.1:p.Met3738Thr | |
| XM_017013111.1:c.8294T>C | XP_016868600.1:p.Met2765Thr | |
| XM_017013112.1:c.6965T>C | XP_016868601.1:p.Met2322Thr | |
| XM_024447074.1:c.10193T>C | XP_024302842.1:p.Met3398Thr | |
| NM_017890.5:c.11408T>C MANE Plus Clinical | NP_060360.3:p.Met3803Thr | |
| NM_152564.5:c.11333T>C MANE Select | NP_689777.3:p.Met3778Thr |