Linked Data
ClinVar Variation Id:
193613
dbSNP Id:
rs144107914
ExAC:
11:10518373 C / T
gnomAD v2:
11-10518373-C-T
gnomAD v3:
11-10496826-C-T
gnomAD v4:
11-10496826-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.10496826C>T , CM000673.2:g.10496826C>T | GRCh38 |
| NC_000011.9:g.10518373C>T , CM000673.1:g.10518373C>T | GRCh37 |
| NC_000011.8:g.10474949C>T | NCBI36 |
| NG_012041.1:g.51150C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396553.7:c.1445C>T MANE Select | ENSP00000379801.2:p.Ser482Leu | |
| ENST00000396553.6:c.1445C>T | ENSP00000379801.2:p.Ser482Leu | |
| ENST00000396554.7:c.1472C>T | ENSP00000379802.3:p.Ser491Leu | |
| ENST00000444303.6:c.968C>T | ENSP00000396000.2:p.Ser323Leu | |
| ENST00000528723.5:c.1466C>T | ENSP00000436987.1:p.Ser489Leu | |
| ENST00000529507.5:c.1445C>T | ENSP00000431648.1:p.Ser482Leu | |
| ENST00000529834.5:c.1445C>T | ENSP00000435382.1:p.Ser482Leu | |
| ENST00000534047.5:c.*798C>T | ENSP00000433937.1:n.*798C>T | |
| NM_000480.2:c.1472C>T | NP_000471.1:p.Ser491Leu | |
| NM_001025389.1:c.1445C>T | NP_001020560.1:p.Ser482Leu | |
| NM_001025390.1:c.1466C>T | NP_001020561.1:p.Ser489Leu | |
| NM_001172430.1:c.1445C>T | NP_001165901.1:p.Ser482Leu | |
| NM_001172431.1:c.968C>T | NP_001165902.1:p.Ser323Leu | |
| NM_000480.3:c.1472C>T | NP_000471.1:p.Ser491Leu | |
| NM_001025389.2:c.1445C>T MANE Select | NP_001020560.1:p.Ser482Leu | |
| NM_001025390.2:c.1466C>T | NP_001020561.1:p.Ser489Leu | |
| NM_001172431.2:c.968C>T | NP_001165902.1:p.Ser323Leu |