Linked Data
ClinVar Variation Id:
2027504
ClinVar RCV Id:
RCV002866654
dbSNP Id:
rs1407570876
gnomAD v2:
8-65537113-A-G
gnomAD v4:
8-64624556-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.64624556A>G , CM000670.2:g.64624556A>G | GRCh38 |
| NC_000008.10:g.65537113A>G , CM000670.1:g.65537113A>G | GRCh37 |
| NC_000008.9:g.65699667A>G | NCBI36 |
| NG_008338.1:g.179236T>C | |
| NG_008338.2:g.179236T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310193.4:c.123-17T>C MANE Select | ENSP00000310721.3:n.123-17T>C | |
| ENST00000310193.3:c.123-17T>C | ENSP00000310721.3:n.123-17T>C | |
| NM_004820.3:c.123-17T>C | NP_004811.1:n.123-17T>C | |
| NM_001324112.1:c.123-17T>C | NP_001311041.1:n.123-17T>C | |
| NM_004820.4:c.123-17T>C | NP_004811.1:n.123-17T>C | |
| XM_017014002.1:c.189-17T>C | XP_016869491.1:n.189-17T>C | |
| NM_004820.5:c.123-17T>C MANE Select | NP_004811.1:n.123-17T>C | |
| NM_001324112.2:c.123-17T>C | NP_001311041.1:n.123-17T>C |