Linked Data
ClinVar Variation Id:
41583
dbSNP Id:
rs145843819
ExAC:
1:241669324 C / T
gnomAD v2:
1-241669324-C-T
gnomAD v3:
1-241506024-C-T
gnomAD v4:
1-241506024-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241506024C>T , CM000663.2:g.241506024C>T | GRCh38 |
| NC_000001.10:g.241669324C>T , CM000663.1:g.241669324C>T | GRCh37 |
| NC_000001.9:g.239735947C>T | NCBI36 |
| NG_012338.1:g.18731G>A , LRG_504:g.18731G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.1386G>A | ||
| ENST00000682162.1:c.912G>A | ENSP00000508203.1:n.912G>A | |
| ENST00000682567.1:n.960G>A | ||
| ENST00000683521.1:c.883G>A | ENSP00000506864.1:p.Ala295Thr | |
| ENST00000684161.1:n.2098G>A | ||
| ENST00000684483.1:c.*279G>A | ENSP00000507894.1:n.*279G>A | |
| ENST00000366560.4:c.883G>A MANE Select | ENSP00000355518.4:p.Ala295Thr | |
| ENST00000366560.3:c.883G>A | ENSP00000355518.3:p.Ala295Thr | |
| NM_000143.3:c.883G>A , LRG_504t1:c.883G>A | NP_000134.2:p.Ala295Thr | |
| XM_011544132.1:c.655G>A | XP_011542434.1:p.Ala219Thr | |
| XM_011544132.2:c.655G>A | XP_011542434.1:p.Ala219Thr | |
| NM_000143.4:c.883G>A MANE Select | NP_000134.2:p.Ala295Thr |