Linked Data
ClinVar Variation Id:
128235
ClinVar RCV Id:
RCV000116202
dbSNP Id:
rs587777374
PubMed:
PMID:27479907
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.96334604G>A , CM000677.2:g.96334604G>A | GRCh38 |
| NC_000015.9:g.96877833G>A , CM000677.1:g.96877833G>A | GRCh37 |
| NC_000015.8:g.94678837G>A | NCBI36 |
| NG_016753.1:g.13677G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394166.8:c.970+1G>A MANE Select | ENSP00000377721.3:n.970+1G>A | |
| ENST00000394166.7:c.970+1G>A | ENSP00000377721.3:n.970+1G>A | |
| ENST00000394171.6:c.511+1G>A | ENSP00000377726.2:n.511+1G>A | |
| ENST00000421109.6:c.571+1G>A | ENSP00000401674.2:n.571+1G>A | |
| ENST00000453270.2:c.511+1G>A | ENSP00000389853.2:n.511+1G>A | |
| NM_001145155.1:c.571+1G>A | NP_001138627.1:n.571+1G>A | |
| NM_001145156.1:c.511+1G>A | NP_001138628.1:n.511+1G>A | |
| NM_001145157.1:c.511+1G>A | NP_001138629.1:n.511+1G>A | |
| NM_021005.3:c.970+1G>A | NP_066285.1:n.970+1G>A | |
| NM_021005.4:c.970+1G>A MANE Select | NP_066285.1:n.970+1G>A | |
| NM_001145155.2:c.571+1G>A | NP_001138627.1:n.571+1G>A | |
| NM_001145157.2:c.511+1G>A | NP_001138629.1:n.511+1G>A |