Linked Data
ClinVar Variation Id:
991591
ClinVar RCV Id:
RCV001279828
dbSNP Id:
rs139740322
ExAC:
2:211473128 C / A
gnomAD v2:
2-211473128-C-A
gnomAD v3:
2-210608404-C-A
gnomAD v4:
2-210608404-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.210608404C>A , CM000664.2:g.210608404C>A | GRCh38 |
| NC_000002.11:g.211473128C>A , CM000664.1:g.211473128C>A | GRCh37 |
| NC_000002.10:g.211181373C>A | NCBI36 |
| NG_008285.1:g.135720C>A , LRG_336:g.135720C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233072.10:c.2236C>A MANE Select | ENSP00000233072.5:p.Pro746Thr | |
| ENST00000430249.7:c.2254C>A | ENSP00000402608.2:p.Pro752Thr | |
| ENST00000451903.3:c.883C>A | ENSP00000406136.2:p.Pro295Thr | |
| ENST00000673510.1:c.2236C>A | ENSP00000500537.1:p.Pro746Thr | |
| ENST00000673630.1:c.2236C>A | ENSP00000501073.1:p.Pro746Thr | |
| ENST00000673698.1:c.716C>A | ||
| ENST00000673711.1:c.2236C>A | ENSP00000501022.1:p.Pro746Thr | |
| ENST00000674074.1:n.1381C>A | ||
| ENST00000233072.9:c.2236C>A | ENSP00000233072.5:p.Pro746Thr | |
| ENST00000430249.6:c.2254C>A | ENSP00000402608.2:p.Pro752Thr | |
| ENST00000451903.2:c.883C>A | ENSP00000406136.2:p.Pro295Thr | |
| NM_001122633.2:c.2254C>A | NP_001116105.1:p.Pro752Thr | |
| NM_001122634.3:c.883C>A | NP_001116106.1:p.Pro295Thr | |
| NM_001875.4:c.2236C>A , LRG_336t1:c.2236C>A | NP_001866.2:p.Pro746Thr | |
| XM_011510640.1:c.2269C>A | XP_011508942.1:p.Pro757Thr | |
| XM_011510641.1:c.2236C>A | XP_011508943.1:p.Pro746Thr | |
| XM_011510642.1:c.2236C>A | XP_011508944.1:p.Pro746Thr | |
| XM_011510643.1:c.2236C>A | XP_011508945.1:p.Pro746Thr | |
| XM_011510644.1:c.2236C>A | XP_011508946.1:p.Pro746Thr | |
| NM_001122633.3:c.2236C>A | NP_001116105.2:p.Pro746Thr | |
| NM_001369256.1:c.2269C>A | NP_001356185.1:p.Pro757Thr | |
| NM_001369257.1:c.2236C>A | NP_001356186.1:p.Pro746Thr | |
| NM_001875.5:c.2236C>A MANE Select | NP_001866.2:p.Pro746Thr | |
| NR_161225.1:n.3145C>A | ||
| NR_163592.1:n.1392C>A |