Linked Data
dbSNP Id:
rs774940710
ExAC:
8:100654304 T / C
gnomAD v2:
8-100654304-T-C
gnomAD v4:
8-99642076-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99642076T>C , CM000670.2:g.99642076T>C | GRCh38 |
| NC_000008.10:g.100654304T>C , CM000670.1:g.100654304T>C | GRCh37 |
| NC_000008.9:g.100723480T>C | NCBI36 |
| NG_007098.2:g.633811T>C , LRG_351:g.633811T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.5561T>C | ENSP00000507923.1:p.Met1854Thr | |
| ENST00000682358.1:n.5631T>C | ||
| ENST00000683334.1:c.*1243T>C | ENSP00000507369.1:n.*1243T>C | |
| ENST00000357162.7:c.5486T>C MANE Select | ENSP00000349685.2:p.Met1829Thr | |
| ENST00000358544.7:c.5561T>C MANE Plus Clinical | ENSP00000351346.2:p.Met1854Thr | |
| ENST00000357162.6:c.5486T>C | ENSP00000349685.2:p.Met1829Thr | |
| ENST00000358544.6:c.5561T>C | ENSP00000351346.2:p.Met1854Thr | |
| NM_017890.4:c.5561T>C , LRG_351t1:c.5561T>C | NP_060360.3:p.Met1854Thr | |
| NM_152564.4:c.5486T>C , LRG_351t2:c.5486T>C | NP_689777.3:p.Met1829Thr | |
| XM_005250800.2:c.5561T>C | XP_005250857.1:p.Met1854Thr | |
| XM_005250801.3:c.5561T>C | XP_005250858.1:p.Met1854Thr | |
| XM_011516848.1:c.5558T>C | XP_011515150.1:p.Met1853Thr | |
| XM_011516849.1:c.5483T>C | XP_011515151.1:p.Met1828Thr | |
| XM_011516850.1:c.5183T>C | XP_011515152.1:p.Met1728Thr | |
| XM_011516851.1:c.2447T>C | XP_011515153.1:p.Met816Thr | |
| XM_011516852.1:c.2447T>C | XP_011515154.1:p.Met816Thr | |
| XM_011516853.1:c.5561T>C | XP_011515155.1:p.Met1854Thr | |
| XM_011516854.1:c.1340T>C | XP_011515156.1:p.Met447Thr | |
| XM_005250800.3:c.5561T>C | XP_005250857.1:p.Met1854Thr | |
| XM_005250801.5:c.5561T>C | XP_005250858.1:p.Met1854Thr | |
| XM_011516848.2:c.5558T>C | XP_011515150.1:p.Met1853Thr | |
| XM_011516849.2:c.5483T>C | XP_011515151.1:p.Met1828Thr | |
| XM_011516850.2:c.5183T>C | XP_011515152.1:p.Met1728Thr | |
| XM_011516851.2:c.2447T>C | XP_011515153.1:p.Met816Thr | |
| XM_011516852.2:c.2447T>C | XP_011515154.1:p.Met816Thr | |
| XM_011516853.2:c.5561T>C | XP_011515155.1:p.Met1854Thr | |
| XM_011516854.2:c.1340T>C | XP_011515156.1:p.Met447Thr | |
| XM_017013109.1:c.5366T>C | XP_016868598.1:p.Met1789Thr | |
| XM_017013111.1:c.2447T>C | XP_016868600.1:p.Met816Thr | |
| XM_017013112.1:c.1118T>C | XP_016868601.1:p.Met373Thr | |
| XM_024447074.1:c.4346T>C | XP_024302842.1:p.Met1449Thr | |
| XR_001745482.2:n.5522T>C | ||
| NM_017890.5:c.5561T>C MANE Plus Clinical | NP_060360.3:p.Met1854Thr | |
| NM_152564.5:c.5486T>C MANE Select | NP_689777.3:p.Met1829Thr |