Linked Data
ClinVar Variation Id:
48604
ClinVar RCV Id:
RCV000041930
RCV000132715
RCV000592589
RCV000665497
RCV000710341
RCV000824785
RCV001075171
RCV003460553
dbSNP Id:
rs397518039
ExAC:
1:216051224 T / C
gnomAD v2:
1-216051224-T-C
gnomAD v3:
1-215877882-T-C
gnomAD v4:
1-215877882-T-C
ERepo:
CA262122/MONDO:0019501/005
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215877882T>C , CM000663.2:g.215877882T>C | GRCh38 |
| NC_000001.10:g.216051224T>C , CM000663.1:g.216051224T>C | GRCh37 |
| NC_000001.9:g.214117847T>C | NCBI36 |
| NG_009497.1:g.550515A>G | |
| NG_009497.2:g.550567A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.8559-2A>G MANE Select | ENSP00000305941.3:n.8559-2A>G | |
| ENST00000674083.1:c.8559-2A>G | ENSP00000501296.1:n.8559-2A>G | |
| ENST00000307340.7:c.8559-2A>G | ENSP00000305941.3:n.8559-2A>G | |
| NM_206933.2:c.8559-2A>G | NP_996816.2:n.8559-2A>G | |
| NM_206933.3:c.8559-2A>G | NP_996816.2:n.8559-2A>G | |
| NM_206933.4:c.8559-2A>G MANE Select | NP_996816.3:n.8559-2A>G |