Linked Data
ClinVar Variation Id:
433166
ClinVar RCV Id:
RCV000497910
dbSNP Id:
rs1557182214
PubMed:
PMID:8595433
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154379567G>T , CM000685.2:g.154379567G>T | GRCh38 |
| NC_000023.10:g.153607927G>T , CM000685.1:g.153607927G>T | GRCh37 |
| NC_000023.9:g.153261121G>T | NCBI36 |
| NG_008677.1:g.10132G>T , LRG_745:g.10132G>T | |
| NG_011506.1:g.80C>A | |
| NG_011506.2:g.72C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682114.1:c.82+1G>T | ENSP00000507245.1:n.82+1G>T | |
| ENST00000682478.1:n.58+1G>T | ||
| ENST00000683576.1:n.58+1G>T | ||
| ENST00000683627.1:c.82+1G>T | ENSP00000507533.1:n.82+1G>T | |
| ENST00000684082.1:c.82+1G>T | ENSP00000508266.1:n.82+1G>T | |
| ENST00000684633.1:n.54+5G>T | ||
| ENST00000684678.1:c.78+5G>T | ENSP00000507059.1:n.78+5G>T | |
| ENST00000369842.9:c.82+1G>T MANE Select | ENSP00000358857.4:n.82+1G>T | |
| ENST00000369835.3:c.82+1G>T | ENSP00000358850.3:n.82+1G>T | |
| ENST00000369842.8:c.82+1G>T | ENSP00000358857.4:n.82+1G>T | |
| ENST00000428228.5:c.53+30G>T | ENSP00000401081.1:n.53+30G>T | |
| ENST00000468294.5:n.42+1G>T | ||
| ENST00000485261.1:n.163+1G>T | ||
| ENST00000486738.5:n.226+1G>T | ||
| ENST00000494443.5:n.139+1G>T | ||
| NM_000117.2:c.82+1G>T , LRG_745t1:c.82+1G>T | NP_000108.1:n.82+1G>T | |
| XM_024452349.1:c.-127+1G>T | XP_024308117.1:n.-127+1G>T | |
| NM_000117.3:c.82+1G>T MANE Select | NP_000108.1:n.82+1G>T |