Linked Data
ClinVar Variation Id:
1177927
ClinVar RCV Id:
RCV001534108
dbSNP Id:
rs72616475
gnomAD v2:
X-153608791-T-C
gnomAD v3:
X-154380431-T-C
gnomAD v4:
X-154380431-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154380431T>C , CM000685.2:g.154380431T>C | GRCh38 |
| NC_000023.10:g.153608791T>C , CM000685.1:g.153608791T>C | GRCh37 |
| NC_000023.9:g.153261985T>C | NCBI36 |
| NG_008677.1:g.10996T>C , LRG_745:g.10996T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682114.1:c.399+64T>C | ENSP00000507245.1:n.399+64T>C | |
| ENST00000682478.1:n.589+64T>C | ||
| ENST00000683576.1:n.589+64T>C | ||
| ENST00000683627.1:c.399+64T>C | ENSP00000507533.1:n.399+64T>C | |
| ENST00000684082.1:c.356+64T>C | ENSP00000508266.1:n.356+64T>C | |
| ENST00000684633.1:n.371+64T>C | ||
| ENST00000684678.1:c.395+64T>C | ENSP00000507059.1:n.395+64T>C | |
| ENST00000369842.9:c.399+64T>C MANE Select | ENSP00000358857.4:n.399+64T>C | |
| ENST00000369835.3:c.294+64T>C | ENSP00000358850.3:n.294+64T>C | |
| ENST00000369842.8:c.399+64T>C | ENSP00000358857.4:n.399+64T>C | |
| ENST00000428228.5:c.*304+64T>C | ENSP00000401081.1:n.*304+64T>C | |
| ENST00000468294.5:n.359+64T>C | ||
| ENST00000485261.1:n.589+64T>C | ||
| ENST00000486738.5:n.757+64T>C | ||
| ENST00000492448.1:n.382+64T>C | ||
| ENST00000494443.5:n.734T>C | ||
| NM_000117.2:c.399+64T>C , LRG_745t1:c.399+64T>C | NP_000108.1:n.399+64T>C | |
| XM_024452349.1:c.405+64T>C | XP_024308117.1:n.405+64T>C | |
| NM_000117.3:c.399+64T>C MANE Select | NP_000108.1:n.399+64T>C |