Linked Data
ClinVar Variation Id:
2800566
ClinVar RCV Id:
RCV003753969
dbSNP Id:
rs141871181
gnomAD v2:
16-56368710-C-T
gnomAD v4:
16-56334798-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56334798C>T , CM000678.2:g.56334798C>T | GRCh38 |
| NC_000016.9:g.56368710C>T , CM000678.1:g.56368710C>T | GRCh37 |
| NC_000016.8:g.54926211C>T | NCBI36 |
| NG_042800.1:g.148460C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262494.13:c.534C>T | ENSP00000262494.7:p.Thr178= | |
| ENST00000262493.12:c.534C>T MANE Select | ENSP00000262493.6:p.Thr178= | |
| ENST00000262494.12:c.534C>T | ENSP00000262494.7:p.Thr178= | |
| ENST00000562316.6:c.201C>T | ENSP00000457238.2:p.Thr67= | |
| ENST00000638185.1:n.749C>T | ||
| ENST00000638210.1:n.834C>T | ||
| ENST00000638705.1:c.534C>T | ENSP00000491223.1:p.Thr178= | |
| ENST00000638836.1:n.444C>T | ||
| ENST00000639055.1:n.1255C>T | ||
| ENST00000639251.1:n.435C>T | ||
| ENST00000639268.1:c.229-1933C>T | ||
| ENST00000639341.1:c.59C>T | ||
| ENST00000639770.1:c.572C>T | ENSP00000491999.1:n.572C>T | |
| ENST00000640390.1:n.464C>T | ||
| ENST00000640893.1:c.373C>T | ENSP00000492677.1:p.Gln125Ter | |
| ENST00000262493.10:c.534C>T | ENSP00000262493.6:p.Thr178= | |
| ENST00000262494.11:c.534C>T | ENSP00000262494.7:p.Thr178= | |
| ENST00000562316.5:c.273C>T | ENSP00000457238.1:p.Thr91= | |
| NM_020988.2:c.534C>T | NP_066268.1:p.Thr178= | |
| NM_138736.2:c.534C>T | NP_620073.2:p.Thr178= | |
| XM_011523003.1:c.408C>T | XP_011521305.1:p.Thr136= | |
| XM_011523003.3:c.408C>T | XP_011521305.1:p.Thr136= | |
| NM_020988.3:c.534C>T MANE Select | NP_066268.1:p.Thr178= | |
| NM_138736.3:c.534C>T | NP_620073.2:p.Thr178= |