Linked Data
ClinVar Variation Id:
542378
ClinVar RCV Id:
RCV000652791
dbSNP Id:
rs201953038
ExAC:
1:151785764 C / T
gnomAD v2:
1-151785764-C-T
gnomAD v3:
1-151813288-C-T
gnomAD v4:
1-151813288-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.151813288C>T , CM000663.2:g.151813288C>T | GRCh38 |
| NC_000001.10:g.151785764C>T , CM000663.1:g.151785764C>T | GRCh37 |
| NC_000001.9:g.150052388C>T | NCBI36 |
| NG_029118.1:g.23585G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652040.2:c.840G>A | ENSP00000498548.2:p.Thr280= | |
| ENST00000697811.1:c.933+1286G>A | ENSP00000513447.1:n.933+1286G>A | |
| ENST00000697812.1:n.263G>A | ||
| ENST00000697813.1:n.1120G>A | ||
| ENST00000318247.7:c.1125G>A MANE Select | ENSP00000327025.6:p.Thr375= | |
| ENST00000356728.11:c.1062G>A | ENSP00000349164.6:p.Thr354= | |
| ENST00000638901.1:c.1316G>A | ||
| ENST00000651814.1:c.*82G>A | ENSP00000498691.1:n.*82G>A | |
| ENST00000651893.1:c.402G>A | ||
| ENST00000318247.6:c.1125G>A | ENSP00000327025.6:p.Thr375= | |
| ENST00000356728.10:c.1062G>A | ENSP00000349164.6:p.Thr354= | |
| ENST00000480719.1:n.1502G>A | ||
| NM_001001523.1:c.1062G>A | NP_001001523.1:p.Thr354= | |
| NM_005060.3:c.1125G>A | NP_005051.2:p.Thr375= | |
| XM_006711484.2:c.1524G>A | XP_006711547.2:p.Thr508= | |
| XR_426792.2:n.1886G>A | ||
| XM_006711484.4:c.1524G>A | XP_006711547.2:p.Thr508= | |
| NM_005060.4:c.1125G>A MANE Select | NP_005051.2:p.Thr375= | |
| NM_001001523.2:c.1062G>A | NP_001001523.1:p.Thr354= |