Linked Data
dbSNP Id:
rs764801019
ExAC:
1:241663739 A / G
gnomAD v2:
1-241663739-A-G
gnomAD v4:
1-241500439-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241500439A>G , CM000663.2:g.241500439A>G | GRCh38 |
| NC_000001.10:g.241663739A>G , CM000663.1:g.241663739A>G | GRCh37 |
| NC_000001.9:g.239730362A>G | NCBI36 |
| NG_012338.1:g.24316T>C , LRG_504:g.24316T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.1891T>C | ||
| ENST00000682162.1:c.1417T>C | ENSP00000508203.1:n.1417T>C | |
| ENST00000682567.1:n.4788T>C | ||
| ENST00000683521.1:c.1388T>C | ENSP00000506864.1:p.Ile463Thr | |
| ENST00000684161.1:n.2603T>C | ||
| ENST00000684483.1:c.*784T>C | ENSP00000507894.1:n.*784T>C | |
| ENST00000366560.4:c.1388T>C MANE Select | ENSP00000355518.4:p.Ile463Thr | |
| ENST00000366560.3:c.1388T>C | ENSP00000355518.3:p.Ile463Thr | |
| NM_000143.3:c.1388T>C , LRG_504t1:c.1388T>C | NP_000134.2:p.Ile463Thr | |
| XM_011544132.1:c.1160T>C | XP_011542434.1:p.Ile387Thr | |
| XM_011544132.2:c.1160T>C | XP_011542434.1:p.Ile387Thr | |
| NM_000143.4:c.1388T>C MANE Select | NP_000134.2:p.Ile463Thr |