Linked Data
ClinVar Variation Id:
1221881
ClinVar RCV Id:
RCV001595699
dbSNP Id:
rs77644889
gnomAD v2:
8-87752036-C-A
gnomAD v3:
8-86739808-C-A
gnomAD v4:
8-86739808-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86739808C>A , CM000670.2:g.86739808C>A | GRCh38 |
| NC_000008.10:g.87752036C>A , CM000670.1:g.87752036C>A | GRCh37 |
| NC_000008.9:g.87821152C>A | NCBI36 |
| NG_016980.1:g.8868G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.130-72G>T MANE Select | ENSP00000316605.5:n.130-72G>T | |
| ENST00000681746.1:c.130-72G>T | ENSP00000505959.1:n.130-72G>T | |
| ENST00000320005.5:c.130-72G>T | ENSP00000316605.5:n.130-72G>T | |
| ENST00000519777.1:n.112-72G>T | ||
| NM_019098.4:c.130-72G>T | NP_061971.3:n.130-72G>T | |
| NM_019098.5:c.130-72G>T MANE Select | NP_061971.3:n.130-72G>T |