Linked Data
dbSNP Id:
rs781689806
ExAC:
4:155490786 C / T
gnomAD v2:
4-155490786-C-T
gnomAD v4:
4-154569634-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154569634C>T , CM000666.2:g.154569634C>T | GRCh38 |
| NC_000004.11:g.155490786C>T , CM000666.1:g.155490786C>T | GRCh37 |
| NC_000004.10:g.155710236C>T | NCBI36 |
| NG_008833.1:g.11655C>T , LRG_558:g.11655C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302068.9:c.1079C>T MANE Select | ENSP00000306099.4:p.Thr360Ile | |
| ENST00000302068.8:c.1079C>T | ENSP00000306099.4:p.Thr360Ile | |
| ENST00000502545.5:n.939+327C>T | ||
| ENST00000509493.1:c.422C>T | ENSP00000426757.1:p.Thr141Ile | |
| NM_001184741.1:c.902C>T | NP_001171670.1:p.Thr301Ile | |
| NM_005141.4:c.1079C>T , LRG_558t1:c.1079C>T | NP_005132.2:p.Thr360Ile | |
| NM_001382759.1:c.947C>T | NP_001369688.1:p.Thr316Ile | |
| NM_001382760.1:c.1079C>T | NP_001369689.1:p.Thr360Ile | |
| NM_001382761.1:c.1079C>T | NP_001369690.1:p.Thr360Ile | |
| NM_001382762.1:c.779C>T | NP_001369691.1:p.Thr260Ile | |
| NM_001382763.1:c.1070C>T | NP_001369692.1:p.Thr357Ile | |
| NM_001382764.1:c.1079C>T | NP_001369693.1:p.Thr360Ile | |
| NM_001382765.1:c.1079C>T | NP_001369694.1:p.Thr360Ile | |
| NM_005141.5:c.1079C>T MANE Select | NP_005132.2:p.Thr360Ile |