Linked Data
ClinVar Variation Id:
224621
ClinVar RCV Id:
RCV000210240
dbSNP Id:
rs869312819
PubMed:
PMID:26908610
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.49544736C>T , CM000675.2:g.49544736C>T | GRCh38 |
| NC_000013.10:g.50118872C>T , CM000675.1:g.50118872C>T | GRCh37 |
| NC_000013.9:g.49016873C>T | NCBI36 |
| NG_046892.1:g.45871G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378302.7:c.1172+1G>A MANE Select | ENSP00000367552.2:n.1172+1G>A | |
| ENST00000258646.3:c.1172+1G>A | ENSP00000258646.3:n.1172+1G>A | |
| ENST00000378302.6:c.1172+1G>A | ENSP00000367552.2:n.1172+1G>A | |
| NM_018191.3:c.1172+1G>A | NP_060661.3:n.1172+1G>A | |
| XM_005266441.2:c.1172+1G>A | XP_005266498.1:n.1172+1G>A | |
| XM_011535133.1:c.1172+1G>A | XP_011533435.1:n.1172+1G>A | |
| XM_011535134.1:c.1172+1G>A | XP_011533436.1:n.1172+1G>A | |
| XM_011535135.1:c.785+1G>A | XP_011533437.1:n.785+1G>A | |
| XR_941613.1:n.3745+1G>A | ||
| NM_001352500.1:c.1172+1G>A | NP_001339429.1:n.1172+1G>A | |
| NM_001352501.1:c.1172+1G>A | NP_001339430.1:n.1172+1G>A | |
| NM_001352502.1:c.1172+1G>A | NP_001339431.1:n.1172+1G>A | |
| NM_001352503.1:c.1172+1G>A | NP_001339432.1:n.1172+1G>A | |
| NM_001352504.1:c.1172+1G>A | NP_001339433.1:n.1172+1G>A | |
| NM_001352506.1:c.593+1G>A | NP_001339435.1:n.593+1G>A | |
| NR_148015.1:n.1591+1G>A | ||
| NR_148016.1:n.1547+1G>A | ||
| XM_011535135.2:c.785+1G>A | XP_011533437.1:n.785+1G>A | |
| XR_001749596.1:n.3094+1G>A | ||
| NM_018191.4:c.1172+1G>A MANE Select | NP_060661.3:n.1172+1G>A | |
| NM_001352500.2:c.1172+1G>A | NP_001339429.1:n.1172+1G>A | |
| NM_001352501.2:c.1172+1G>A | NP_001339430.1:n.1172+1G>A | |
| NM_001352502.2:c.1172+1G>A | NP_001339431.1:n.1172+1G>A | |
| NM_001352503.2:c.1172+1G>A | NP_001339432.1:n.1172+1G>A | |
| NM_001352506.2:c.593+1G>A | NP_001339435.1:n.593+1G>A | |
| NR_148015.2:n.1566+1G>A | ||
| NR_148016.2:n.1522+1G>A | ||
| NM_001352504.2:c.1172+1G>A | NP_001339433.1:n.1172+1G>A |