Linked Data
ClinVar Variation Id:
301309
ClinVar RCV Id:
RCV000348779
dbSNP Id:
rs113121685
gnomAD v2:
10-85976870-C-T
gnomAD v3:
10-84217114-C-T
gnomAD v4:
10-84217114-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.84217114C>T , CM000672.2:g.84217114C>T | GRCh38 |
| NC_000010.10:g.85976870C>T , CM000672.1:g.85976870C>T | GRCh37 |
| NC_000010.9:g.85966850C>T | NCBI36 |
| NG_028034.1:g.27459C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000623527.4:c.*2493C>T MANE Select | ENSP00000485478.1:n.*2493C>T | |
| ENST00000332904.7:c.2041-1965C>T | ENSP00000331063.3:n.2041-1965C>T | |
| ENST00000372117.6:c.4288C>T | ||
| ENST00000459673.1:n.3505C>T | ||
| ENST00000623399.1:c.212-1965C>T | ||
| ENST00000623527.3:c.*2493C>T | ENSP00000485478.1:n.*2493C>T | |
| NM_001171971.2:c.2041-1965C>T | NP_001165442.1:n.2041-1965C>T | |
| NM_033100.3:c.*2493C>T | NP_149091.1:n.*2493C>T | |
| XM_011540337.1:c.*2493C>T | XP_011538639.1:n.*2493C>T | |
| XM_011540338.1:c.2215-1965C>T | XP_011538640.1:n.2215-1965C>T | |
| XM_011540339.1:c.*2493C>T | XP_011538641.1:n.*2493C>T | |
| NM_033100.4:c.*2493C>T MANE Select | NP_149091.1:n.*2493C>T | |
| NM_001171971.3:c.2041-1965C>T | NP_001165442.1:n.2041-1965C>T |