Linked Data
dbSNP Id:
rs768251250
ExAC:
11:124742948 C / T
gnomAD v2:
11-124742948-C-T
gnomAD v3:
11-124873052-C-T
gnomAD v4:
11-124873052-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.124873052C>T , CM000673.2:g.124873052C>T | GRCh38 |
| NC_000011.9:g.124742948C>T , CM000673.1:g.124742948C>T | GRCh37 |
| NC_000011.8:g.124248158C>T | NCBI36 |
| NG_016214.1:g.12644C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397801.6:c.1499C>T MANE Select | ENSP00000380903.1:p.Thr500Ile | |
| ENST00000397801.5:c.1499C>T | ENSP00000380903.1:p.Thr500Ile | |
| ENST00000538940.5:c.1433C>T | ENSP00000441797.1:p.Thr478Ile | |
| NM_022370.3:c.1499C>T | NP_071765.2:p.Thr500Ile | |
| XM_011542953.1:c.2471C>T | XP_011541255.1:p.Thr824Ile | |
| XM_017018122.1:c.1433C>T | XP_016873611.1:p.Thr478Ile | |
| NM_022370.4:c.1499C>T MANE Select | NP_071765.2:p.Thr500Ile |