Linked Data
dbSNP Id:
rs750427266
ExAC:
14:54418594 G / C
gnomAD v2:
14-54418594-G-C
gnomAD v3:
14-53951876-G-C
gnomAD v4:
14-53951876-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.53951876G>C , CM000676.2:g.53951876G>C | GRCh38 |
| NC_000014.8:g.54418594G>C , CM000676.1:g.54418594G>C | GRCh37 |
| NC_000014.7:g.53488344G>C | NCBI36 |
| NG_009215.1:g.9961C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245451.9:c.347C>G MANE Select | ENSP00000245451.4:p.Thr116Ser | |
| ENST00000245451.8:c.347C>G | ENSP00000245451.4:p.Thr116Ser | |
| ENST00000417573.5:c.347C>G | ENSP00000394165.1:p.Thr116Ser | |
| ENST00000558961.1:c.272C>G | ENSP00000453691.1:p.Thr91Ser | |
| ENST00000558984.1:c.347C>G | ENSP00000454134.1:p.Thr116Ser | |
| ENST00000559087.5:c.347C>G | ENSP00000453485.1:p.Thr116Ser | |
| ENST00000559501.1:c.158C>G | ENSP00000453365.1:p.Thr53Ser | |
| ENST00000609748.1:c.5C>G | ENSP00000476690.1:p.Thr2Ser | |
| NM_001202.3:c.347C>G | NP_001193.2:p.Thr116Ser | |
| NM_130850.2:c.347C>G | NP_570911.2:p.Thr116Ser | |
| NM_130851.2:c.347C>G | NP_570912.2:p.Thr116Ser | |
| XM_005268015.3:c.347C>G | XP_005268072.1:p.Thr116Ser | |
| NM_001202.5:c.347C>G | NP_001193.2:p.Thr116Ser | |
| NM_001347912.1:c.488C>G | NP_001334841.1:p.Thr163Ser | |
| NM_001347913.1:c.158C>G | NP_001334842.1:p.Thr53Ser | |
| NM_001347914.1:c.347C>G | NP_001334843.1:p.Thr116Ser | |
| NM_001347915.1:c.158C>G | NP_001334844.1:p.Thr53Ser | |
| NM_001347916.1:c.347C>G | NP_001334845.1:p.Thr116Ser | |
| NM_001347917.1:c.158C>G | NP_001334846.1:p.Thr53Ser | |
| NM_130850.4:c.347C>G | NP_570911.2:p.Thr116Ser | |
| NM_130851.3:c.347C>G | NP_570912.2:p.Thr116Ser | |
| NM_001202.6:c.347C>G MANE Select | NP_001193.2:p.Thr116Ser | |
| NM_130850.5:c.347C>G | NP_570911.2:p.Thr116Ser | |
| NM_001347913.2:c.158C>G | NP_001334842.1:p.Thr53Ser | |
| NM_001347914.2:c.347C>G | NP_001334843.1:p.Thr116Ser | |
| NM_001347915.2:c.158C>G | NP_001334844.1:p.Thr53Ser | |
| NM_130851.4:c.347C>G | NP_570912.2:p.Thr116Ser |