Linked Data
ClinVar Variation Id:
838273
ClinVar RCV Id:
RCV001039788
dbSNP Id:
rs1801670868
gnomAD v4:
8-31120240-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31120240C>T , CM000670.2:g.31120240C>T | GRCh38 |
| NC_000008.10:g.30977756C>T , CM000670.1:g.30977756C>T | GRCh37 |
| NC_000008.9:g.31097298C>T | NCBI36 |
| NG_008870.1:g.91979C>T , LRG_524:g.91979C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.2449-3C>T MANE Select | ENSP00000298139.5:n.2449-3C>T | |
| ENST00000650667.1:c.*2063-3C>T | ENSP00000498593.1:n.*2063-3C>T | |
| ENST00000298139.5:c.2449-3C>T | ENSP00000298139.5:n.2449-3C>T | |
| ENST00000520169.1:n.285C>T | ||
| ENST00000521620.5:n.1082-3C>T | ||
| NM_000553.4:c.2449-3C>T , LRG_524t1:c.2449-3C>T | NP_000544.2:n.2449-3C>T | |
| XM_011544639.1:c.2368-3C>T | XP_011542941.1:n.2368-3C>T | |
| XM_011544640.1:c.850-3C>T | XP_011542942.1:n.850-3C>T | |
| XR_949470.1:n.2722-3C>T | ||
| XR_949471.1:n.2722-3C>T | ||
| XR_949472.1:n.2722-3C>T | ||
| NM_000553.5:c.2449-3C>T | NP_000544.2:n.2449-3C>T | |
| XM_011544639.3:c.2368-3C>T | XP_011542941.1:n.2368-3C>T | |
| XM_024447265.1:c.2239-3C>T | XP_024303033.1:n.2239-3C>T | |
| XR_949470.3:n.2750-3C>T | ||
| XR_949471.3:n.2750-3C>T | ||
| XR_949472.3:n.2750-3C>T | ||
| NM_000553.6:c.2449-3C>T MANE Select | NP_000544.2:n.2449-3C>T |