Linked Data
ClinVar Variation Id:
597746
ClinVar RCV Id:
RCV000733964
dbSNP Id:
rs187255209
ExAC:
11:17634279 C / T
gnomAD v2:
11-17634279-C-T
gnomAD v3:
11-17612732-C-T
gnomAD v4:
11-17612732-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17612732C>T , CM000673.2:g.17612732C>T | GRCh38 |
| NC_000011.9:g.17634279C>T , CM000673.1:g.17634279C>T | GRCh37 |
| NC_000011.8:g.17590855C>T | NCBI36 |
| NG_033191.1:g.70360C>T | |
| NG_033191.2:g.70360C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399391.7:c.6441C>T | ENSP00000382323.2:p.Thr2147= | |
| ENST00000399397.6:c.6405C>T MANE Select | ENSP00000382329.2:p.Thr2135= | |
| ENST00000342528.2:c.3459C>T | ENSP00000341666.2:p.Thr1153= | |
| ENST00000399391.6:c.6441C>T | ENSP00000382323.2:p.Thr2147= | |
| ENST00000399397.5:c.6405C>T | ENSP00000382329.2:p.Thr2135= | |
| NM_001277269.1:c.6441C>T | NP_001264198.1:p.Thr2147= | |
| NM_001292063.1:c.6405C>T | NP_001278992.1:p.Thr2135= | |
| NM_001277269.2:c.6441C>T | NP_001264198.1:p.Thr2147= | |
| NM_001292063.2:c.6405C>T MANE Select | NP_001278992.1:p.Thr2135= |