Linked Data
ClinVar Variation Id:
427622
ClinVar RCV Id:
RCV000515852
dbSNP Id:
rs1554900675
PubMed:
PMID:28677221
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87952263A>T , CM000672.2:g.87952263A>T | GRCh38 |
| NC_000010.10:g.89712020A>T , CM000672.1:g.89712020A>T | GRCh37 |
| NC_000010.9:g.89702000A>T | NCBI36 |
| NG_007466.2:g.93825A>T , LRG_311:g.93825A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.634+4A>T | ENSP00000514759.2:n.634+4A>T | |
| ENST00000710265.1:c.634+4A>T | ENSP00000518161.1:n.634+4A>T | |
| ENST00000472832.3:c.634+4A>T | ENSP00000483066.2:n.634+4A>T | |
| ENST00000688158.2:n.1369+4A>T | ||
| ENST00000688922.2:c.*464+4A>T | ENSP00000508742.2:n.*464+4A>T | |
| ENST00000700021.1:c.589+4A>T | ENSP00000514757.1:n.589+4A>T | |
| ENST00000700022.1:c.493-5590A>T | ENSP00000514758.1:n.493-5590A>T | |
| ENST00000700023.1:n.1792+4A>T | ||
| ENST00000700024.1:n.2026+4A>T | ||
| ENST00000700025.1:n.1403+4A>T | ||
| ENST00000700029.1:c.468+4A>T | ||
| ENST00000706954.1:c.634+4A>T | ENSP00000516674.1:n.634+4A>T | |
| ENST00000706955.1:c.*669+4A>T | ENSP00000516675.1:n.*669+4A>T | |
| ENST00000686459.1:c.*220+4A>T | ENSP00000508909.1:n.*220+4A>T | |
| ENST00000688158.1:c.*745+4A>T | ENSP00000509254.1:n.*745+4A>T | |
| ENST00000688308.1:c.634+4A>T | ENSP00000508752.1:n.634+4A>T | |
| ENST00000688922.1:c.555+4A>T | ||
| ENST00000693560.1:c.1153+4A>T | ENSP00000509861.1:n.1153+4A>T | |
| ENST00000371953.8:c.634+4A>T MANE Select | ENSP00000361021.3:n.634+4A>T | |
| ENST00000371953.7:c.634+4A>T | ENSP00000361021.3:n.634+4A>T | |
| ENST00000472832.2:c.61+4A>T | ENSP00000483066.1:n.61+4A>T | |
| NM_000314.5:c.634+4A>T | NP_000305.3:n.634+4A>T | |
| NM_000314.6:c.634+4A>T | NP_000305.3:n.634+4A>T | |
| NM_001304717.2:c.1153+4A>T | NP_001291646.2:n.1153+4A>T | |
| NM_001304718.1:c.43+4A>T | NP_001291647.1:n.43+4A>T | |
| XM_006717926.2:c.589+4A>T | XP_006717989.1:n.589+4A>T | |
| XM_011539981.1:c.634+4A>T | XP_011538283.1:n.634+4A>T | |
| XM_011539982.1:c.538+4A>T | XP_011538284.1:n.538+4A>T | |
| XR_945791.1:n.1205-5590A>T | ||
| NM_000314.7:c.634+4A>T | NP_000305.3:n.634+4A>T | |
| NM_001304717.5:c.1153+4A>T | NP_001291646.4:n.1153+4A>T | |
| NM_001304718.2:c.43+4A>T | NP_001291647.1:n.43+4A>T | |
| NM_000314.8:c.634+4A>T MANE Select | NP_000305.3:n.634+4A>T |