Linked Data
ClinVar Variation Id:
7298
ClinVar RCV Id:
RCV000007721
dbSNP Id:
rs104894215
PubMed:
PMID:11886537
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.88294111C>G , CM000673.2:g.88294111C>G | GRCh38 |
| NC_000011.9:g.88027279C>G , CM000673.1:g.88027279C>G | GRCh37 |
| NC_000011.8:g.87666927C>G | NCBI36 |
| NG_007952.1:g.48663G>C , LRG_50:g.48663G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000227266.10:c.1287G>C MANE Select | ENSP00000227266.4:p.Trp429Cys | |
| ENST00000533897.2:n.5600G>C | ||
| ENST00000676612.1:c.*1094G>C | ENSP00000504440.1:n.*1094G>C | |
| ENST00000677208.1:c.*793G>C | ENSP00000504347.1:n.*793G>C | |
| ENST00000677661.1:c.*964G>C | ENSP00000503323.1:n.*964G>C | |
| ENST00000677802.1:c.*964G>C | ENSP00000504115.1:n.*964G>C | |
| ENST00000678395.1:c.*793G>C | ENSP00000503123.1:n.*793G>C | |
| ENST00000678464.1:c.1254G>C | ENSP00000503046.1:p.Trp418Cys | |
| ENST00000678506.1:c.1248G>C | ENSP00000503580.1:p.Trp416Cys | |
| ENST00000678520.1:c.*938G>C | ENSP00000503361.1:n.*938G>C | |
| ENST00000678554.1:c.889+2022G>C | ENSP00000504541.1:n.889+2022G>C | |
| ENST00000678915.1:c.1155G>C | ENSP00000504805.1:p.Trp385Cys | |
| ENST00000679224.1:c.924G>C | ENSP00000504475.1:p.Trp308Cys | |
| ENST00000227266.9:c.1287G>C | ENSP00000227266.4:p.Trp429Cys | |
| ENST00000533897.1:n.4021G>C | ||
| NM_001814.4:c.1287G>C , LRG_50t1:c.1287G>C | NP_001805.3:p.Trp429Cys | |
| NM_001814.5:c.1287G>C | NP_001805.3:p.Trp429Cys | |
| NM_001814.6:c.1287G>C MANE Select | NP_001805.4:p.Trp429Cys |