Linked Data
ClinVar Variation Id:
1108769
ClinVar RCV Id:
RCV001434348
dbSNP Id:
rs1554873099
gnomAD v4:
8-144414441-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144414441G>A , CM000670.2:g.144414441G>A | GRCh38 |
| NC_000008.10:g.145639825G>A , CM000670.1:g.145639825G>A | GRCh37 |
| NC_000008.9:g.145610633G>A | NCBI36 |
| NG_012234.2:g.7450C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301305.8:c.977-7C>T MANE Select | ENSP00000301305.4:n.977-7C>T | |
| ENST00000276833.9:c.902-7C>T | ENSP00000276833.5:n.902-7C>T | |
| ENST00000301305.7:c.977-7C>T | ENSP00000301305.3:n.977-7C>T | |
| NM_017767.2:c.902-7C>T | NP_060237.2:n.902-7C>T | |
| NM_130849.3:c.977-7C>T | NP_570901.2:n.977-7C>T | |
| XM_006716599.1:c.977-7C>T | XP_006716662.1:n.977-7C>T | |
| XM_011517153.1:c.695-7C>T | XP_011515455.1:n.695-7C>T | |
| XM_024447188.1:c.695-7C>T | XP_024302956.1:n.695-7C>T | |
| XM_024447189.1:c.695-7C>T | XP_024302957.1:n.695-7C>T | |
| NM_001374839.1:c.695-7C>T | NP_001361768.1:n.695-7C>T | |
| NM_017767.3:c.902-7C>T | NP_060237.3:n.902-7C>T | |
| NM_130849.4:c.977-7C>T MANE Select | NP_570901.3:n.977-7C>T |