Linked Data
dbSNP Id:
rs1484349489
gnomAD v2:
8-100789112-T-C
gnomAD v3:
8-99776884-T-C
gnomAD v4:
8-99776884-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99776884T>C , CM000670.2:g.99776884T>C | GRCh38 |
| NC_000008.10:g.100789112T>C , CM000670.1:g.100789112T>C | GRCh37 |
| NC_000008.9:g.100858288T>C | NCBI36 |
| NG_007098.2:g.768619T>C , LRG_351:g.768619T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.7432T>C | ENSP00000507923.1:p.Ser2478Pro | |
| ENST00000682358.1:n.7502T>C | ||
| ENST00000683334.1:c.*3114T>C | ENSP00000507369.1:n.*3114T>C | |
| ENST00000357162.7:c.7357T>C MANE Select | ENSP00000349685.2:p.Ser2453Pro | |
| ENST00000358544.7:c.7432T>C MANE Plus Clinical | ENSP00000351346.2:p.Ser2478Pro | |
| ENST00000357162.6:c.7357T>C | ENSP00000349685.2:p.Ser2453Pro | |
| ENST00000358544.6:c.7432T>C | ENSP00000351346.2:p.Ser2478Pro | |
| ENST00000518569.1:n.378-1798T>C | ||
| NM_017890.4:c.7432T>C , LRG_351t1:c.7432T>C | NP_060360.3:p.Ser2478Pro | |
| NM_152564.4:c.7357T>C , LRG_351t2:c.7357T>C | NP_689777.3:p.Ser2453Pro | |
| XM_005250800.2:c.7432T>C | XP_005250857.1:p.Ser2478Pro | |
| XM_005250801.3:c.7432T>C | XP_005250858.1:p.Ser2478Pro | |
| XM_011516848.1:c.7429T>C | XP_011515150.1:p.Ser2477Pro | |
| XM_011516849.1:c.7354T>C | XP_011515151.1:p.Ser2452Pro | |
| XM_011516850.1:c.7054T>C | XP_011515152.1:p.Ser2352Pro | |
| XM_011516851.1:c.4318T>C | XP_011515153.1:p.Ser1440Pro | |
| XM_011516852.1:c.4318T>C | XP_011515154.1:p.Ser1440Pro | |
| XM_011516853.1:c.7432T>C | XP_011515155.1:p.Ser2478Pro | |
| XM_011516854.1:c.3211T>C | XP_011515156.1:p.Ser1071Pro | |
| XR_928446.1:n.1830+5594A>G | ||
| XM_005250800.3:c.7432T>C | XP_005250857.1:p.Ser2478Pro | |
| XM_005250801.5:c.7432T>C | XP_005250858.1:p.Ser2478Pro | |
| XM_011516848.2:c.7429T>C | XP_011515150.1:p.Ser2477Pro | |
| XM_011516849.2:c.7354T>C | XP_011515151.1:p.Ser2452Pro | |
| XM_011516850.2:c.7054T>C | XP_011515152.1:p.Ser2352Pro | |
| XM_011516851.2:c.4318T>C | XP_011515153.1:p.Ser1440Pro | |
| XM_011516852.2:c.4318T>C | XP_011515154.1:p.Ser1440Pro | |
| XM_011516853.2:c.7432T>C | XP_011515155.1:p.Ser2478Pro | |
| XM_011516854.2:c.3211T>C | XP_011515156.1:p.Ser1071Pro | |
| XM_017013109.1:c.7237T>C | XP_016868598.1:p.Ser2413Pro | |
| XM_017013111.1:c.4318T>C | XP_016868600.1:p.Ser1440Pro | |
| XM_017013112.1:c.2989T>C | XP_016868601.1:p.Ser997Pro | |
| XM_024447074.1:c.6217T>C | XP_024302842.1:p.Ser2073Pro | |
| NM_017890.5:c.7432T>C MANE Plus Clinical | NP_060360.3:p.Ser2478Pro | |
| NM_152564.5:c.7357T>C MANE Select | NP_689777.3:p.Ser2453Pro |