Linked Data
dbSNP Id:
rs752024682
ExAC:
3:87309189 A / G
gnomAD v2:
3-87309189-A-G
gnomAD v4:
3-87260039-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.87260039A>G , CM000665.2:g.87260039A>G | GRCh38 |
| NC_000003.11:g.87309189A>G , CM000665.1:g.87309189A>G | GRCh37 |
| NC_000003.10:g.87391879A>G | NCBI36 |
| NG_008225.2:g.21549T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344265.8:c.809T>C | ENSP00000342931.3:p.Ile270Thr | |
| ENST00000350375.7:c.731T>C MANE Select | ENSP00000263781.2:p.Ile244Thr | |
| ENST00000344265.7:c.809T>C | ENSP00000342931.3:p.Ile270Thr | |
| ENST00000350375.6:c.731T>C | ENSP00000263781.2:p.Ile244Thr | |
| ENST00000560656.1:c.505T>C | ENSP00000452610.1:p.Ser169Pro | |
| ENST00000561167.5:c.506T>C | ENSP00000454072.1:p.Ile169Thr | |
| NM_000306.3:c.731T>C | NP_000297.1:p.Ile244Thr | |
| NM_001122757.2:c.809T>C | NP_001116229.1:p.Ile270Thr | |
| NM_000306.4:c.731T>C MANE Select | NP_000297.1:p.Ile244Thr | |
| NM_001122757.3:c.809T>C | NP_001116229.1:p.Ile270Thr |