Linked Data
ClinVar Variation Id:
1945102
ClinVar RCV Id:
RCV002680728
dbSNP Id:
rs776668184
ExAC:
11:65487275 G / A
gnomAD v2:
11-65487275-G-A
gnomAD v3:
11-65719804-G-A
gnomAD v4:
11-65719804-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65719804G>A , CM000673.2:g.65719804G>A | GRCh38 |
| NC_000011.9:g.65487275G>A , CM000673.1:g.65487275G>A | GRCh37 |
| NC_000011.8:g.65243851G>A | NCBI36 |
| NG_008976.2:g.6135C>T , LRG_280:g.6135C>T | |
| NG_033057.1:g.12803G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308418.10:c.474C>T MANE Select | ENSP00000308193.5:p.His158= | |
| ENST00000528220.2:n.703C>T | ||
| ENST00000531596.6:c.474C>T | ENSP00000435717.2:p.His158= | |
| ENST00000534482.6:c.474C>T | ENSP00000432081.2:p.His158= | |
| ENST00000642430.1:n.367C>T | ||
| ENST00000643214.1:n.548C>T | ||
| ENST00000644142.1:c.474C>T | ENSP00000493695.1:p.His158= | |
| ENST00000644198.1:n.371C>T | ||
| ENST00000646597.1:n.411C>T | ||
| ENST00000308418.8:c.474C>T | ENSP00000308193.4:p.His158= | |
| ENST00000527610.1:c.709C>T | ENSP00000432897.1:p.Arg237Cys | |
| ENST00000528220.1:c.225C>T | ENSP00000431555.1:p.His75= | |
| ENST00000531596.5:c.455C>T | ||
| ENST00000533698.5:c.353C>T | ||
| ENST00000534482.5:c.368C>T | ||
| NM_032193.3:c.474C>T , LRG_280t1:c.474C>T | NP_115569.2:p.His158= | |
| NM_032193.4:c.474C>T MANE Select | NP_115569.2:p.His158= |