Linked Data
ClinVar Variation Id:
2765934
ClinVar RCV Id:
RCV003578553
dbSNP Id:
rs762066957
gnomAD v2:
6-42928708-C-T
gnomAD v3:
6-42960970-C-T
gnomAD v4:
6-42960970-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42960970C>T , CM000668.2:g.42960970C>T | GRCh38 |
| NC_000006.11:g.42928708C>T , CM000668.1:g.42928708C>T | GRCh37 |
| NC_000006.10:g.43036686C>T | NCBI36 |
| NG_008396.1:g.5209C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372808.4:c.203C>T MANE Select | ENSP00000361894.3:p.Thr68Ile | |
| ENST00000372808.3:c.203C>T | ENSP00000361894.3:p.Thr68Ile | |
| NM_018960.4:c.203C>T | NP_061833.1:p.Thr68Ile | |
| XM_011514493.1:c.-13-1242C>T | XP_011512795.1:n.-13-1242C>T | |
| XM_011514494.1:c.-13-1242C>T | XP_011512796.1:n.-13-1242C>T | |
| NM_001318856.1:c.9-1242C>T | NP_001305785.1:n.9-1242C>T | |
| NM_001318857.1:c.152-1792C>T | NP_001305786.1:n.152-1792C>T | |
| NM_001318858.1:c.152-1792C>T | NP_001305787.1:n.152-1792C>T | |
| NM_001318865.1:c.203C>T | NP_001305794.1:p.Thr68Ile | |
| NM_018960.5:c.203C>T | NP_061833.1:p.Thr68Ile | |
| NR_134890.1:n.690-1792C>T | ||
| NR_134891.1:n.593-1792C>T | ||
| NR_134892.1:n.593-1242C>T | ||
| NR_134899.1:n.217C>T | ||
| NM_018960.6:c.203C>T MANE Select | NP_061833.1:p.Thr68Ile | |
| NM_001318856.2:c.9-1242C>T | NP_001305785.1:n.9-1242C>T | |
| NM_001318857.2:c.152-1792C>T | NP_001305786.1:n.152-1792C>T | |
| NM_001318858.2:c.152-1792C>T | NP_001305787.1:n.152-1792C>T | |
| NM_001318865.2:c.203C>T | NP_001305794.1:p.Thr68Ile | |
| NR_134890.2:n.340-1792C>T | ||
| NR_134891.2:n.243-1792C>T | ||
| NR_134892.2:n.243-1242C>T | ||
| NR_134899.2:n.217C>T |