Linked Data
ClinVar Variation Id:
5046
ClinVar RCV Id:
RCV000005349
dbSNP Id:
rs1035139364
gnomAD v2:
12-53702508-C-T
gnomAD v3:
12-53308724-C-T
gnomAD v4:
12-53308724-C-T
PubMed:
PMID:11701718
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53308724C>T , CM000674.2:g.53308724C>T | GRCh38 |
| NC_000012.11:g.53702508C>T , CM000674.1:g.53702508C>T | GRCh37 |
| NC_000012.10:g.51988775C>T | NCBI36 |
| NG_016775.1:g.17905G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000209873.9:c.1087+1G>A MANE Select | ENSP00000209873.4:n.1087+1G>A | |
| ENST00000546562.6:n.2151+1G>A | ||
| ENST00000547238.6:n.1723+1G>A | ||
| ENST00000547520.6:n.1081+1G>A | ||
| ENST00000547757.2:c.136+1G>A | ENSP00000448020.2:n.136+1G>A | |
| ENST00000548880.2:n.1537+1G>A | ||
| ENST00000548931.6:c.607+1G>A | ENSP00000457518.1:n.607+1G>A | |
| ENST00000549450.6:n.1021+1G>A | ||
| ENST00000552161.6:n.2043+1G>A | ||
| ENST00000672797.1:n.1576+1G>A | ||
| ENST00000672900.1:n.2029+1G>A | ||
| ENST00000209873.8:c.1087+1G>A | ENSP00000209873.4:n.1087+1G>A | |
| ENST00000394384.7:c.988+1G>A | ENSP00000377908.3:n.988+1G>A | |
| ENST00000548931.5:c.607+1G>A | ENSP00000457518.1:n.607+1G>A | |
| ENST00000550033.5:n.342+1G>A | ||
| ENST00000550286.5:c.715+1G>A | ENSP00000446885.1:n.715+1G>A | |
| ENST00000552876.5:n.1430+1G>A | ||
| NM_001173466.1:c.988+1G>A | NP_001166937.1:n.988+1G>A | |
| NM_015665.5:c.1087+1G>A | NP_056480.1:n.1087+1G>A | |
| XM_006719617.2:c.1102+1G>A | XP_006719680.1:n.1102+1G>A | |
| XM_011538777.1:c.1102+1G>A | XP_011537079.1:n.1102+1G>A | |
| XM_011538778.1:c.1087+1G>A | XP_011537080.1:n.1087+1G>A | |
| XM_011538779.1:c.1003+1G>A | XP_011537081.1:n.1003+1G>A | |
| XM_011538780.1:c.988+1G>A | XP_011537082.1:n.988+1G>A | |
| XM_011538781.1:c.436+1G>A | XP_011537083.1:n.436+1G>A | |
| XM_011538778.2:c.1087+1G>A | XP_011537080.1:n.1087+1G>A | |
| XM_011538780.2:c.988+1G>A | XP_011537082.1:n.988+1G>A | |
| XR_001748875.2:n.1144+1G>A | ||
| NM_015665.6:c.1087+1G>A MANE Select | NP_056480.1:n.1087+1G>A | |
| NM_001173466.2:c.988+1G>A | NP_001166937.1:n.988+1G>A |