Linked Data
ClinVar Variation Id:
1281843
ClinVar RCV Id:
RCV001693827
dbSNP Id:
rs4891
ExAC:
11:67353970 T / C
gnomAD v2:
11-67353970-T-C
gnomAD v3:
11-67586499-T-C
gnomAD v4:
11-67586499-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67586499T>C , CM000673.2:g.67586499T>C | GRCh38 |
| NC_000011.9:g.67353970T>C , CM000673.1:g.67353970T>C | GRCh37 |
| NC_000011.8:g.67110546T>C | NCBI36 |
| NG_012075.1:g.7905T>C , LRG_723:g.7905T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.447T>C | ENSP00000381604.1:p.Ser149= | |
| ENST00000398606.10:c.555T>C MANE Select | ENSP00000381607.3:p.Ser185= | |
| ENST00000646888.1:c.*271T>C | ENSP00000494477.1:n.*271T>C | |
| ENST00000398603.5:c.447T>C | ENSP00000381604.1:p.Ser149= | |
| ENST00000398606.7:c.555T>C | ENSP00000381607.3:p.Ser185= | |
| ENST00000467591.1:n.666T>C | ||
| ENST00000494593.1:n.1527T>C | ||
| ENST00000498765.5:c.618T>C | ||
| NM_000852.3:c.555T>C , LRG_723t1:c.555T>C | NP_000843.1:p.Ser185= | |
| NM_000852.4:c.555T>C MANE Select | NP_000843.1:p.Ser185= |