Linked Data
ClinVar Variation Id:
1540702
ClinVar RCV Id:
RCV002157234
dbSNP Id:
rs1311284985
gnomAD v4:
8-31067016-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31067016T>C , CM000670.2:g.31067016T>C | GRCh38 |
| NC_000008.10:g.30924532T>C , CM000670.1:g.30924532T>C | GRCh37 |
| NC_000008.9:g.31044074T>C | NCBI36 |
| NG_008870.1:g.38755T>C , LRG_524:g.38755T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.505-17T>C MANE Select | ENSP00000298139.5:n.505-17T>C | |
| ENST00000650667.1:c.*119-17T>C | ENSP00000498593.1:n.*119-17T>C | |
| ENST00000298139.5:c.505-17T>C | ENSP00000298139.5:n.505-17T>C | |
| NM_000553.4:c.505-17T>C , LRG_524t1:c.505-17T>C | NP_000544.2:n.505-17T>C | |
| XM_011544639.1:c.505-17T>C | XP_011542941.1:n.505-17T>C | |
| XR_949470.1:n.778-17T>C | ||
| XR_949471.1:n.778-17T>C | ||
| XR_949472.1:n.778-17T>C | ||
| NM_000553.5:c.505-17T>C | NP_000544.2:n.505-17T>C | |
| XM_011544639.3:c.505-17T>C | XP_011542941.1:n.505-17T>C | |
| XM_024447265.1:c.295-17T>C | XP_024303033.1:n.295-17T>C | |
| XR_949470.3:n.806-17T>C | ||
| XR_949471.3:n.806-17T>C | ||
| XR_949472.3:n.806-17T>C | ||
| NM_000553.6:c.505-17T>C MANE Select | NP_000544.2:n.505-17T>C |