Linked Data
ClinVar Variation Id:
1285792
ClinVar RCV Id:
RCV001708086
dbSNP Id:
rs7023329
gnomAD v2:
9-21816528-A-G
gnomAD v3:
9-21816529-A-G
gnomAD v4:
9-21816529-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.21816529A>G , CM000671.2:g.21816529A>G | GRCh38 |
| NC_000009.11:g.21816528A>G , CM000671.1:g.21816528A>G | GRCh37 |
| NC_000009.10:g.21806528A>G | NCBI36 |
| NG_032650.1:g.18894A>G | |
| NG_032650.2:g.18894A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000404796.3:c.121-185A>G | ENSP00000385916.2:n.121-185A>G | |
| ENST00000644715.2:c.121-185A>G MANE Select | ENSP00000494373.1:n.121-185A>G | |
| ENST00000380172.8:c.121-185A>G | ENSP00000369519.4:n.121-185A>G | |
| ENST00000404796.2:c.121-185A>G | ENSP00000385916.2:n.121-185A>G | |
| ENST00000419385.5:c.146-185A>G | ENSP00000393507.1:n.146-185A>G | |
| ENST00000427788.2:n.507-185A>G | ||
| ENST00000460874.6:c.172-185A>G | ENSP00000461932.1:n.172-185A>G | |
| ENST00000579422.5:n.509-185A>G | ||
| ENST00000580718.1:c.121-185A>G | ENSP00000464616.1:n.121-185A>G | |
| ENST00000580900.5:c.121-185A>G | ENSP00000463424.1:n.121-185A>G | |
| NM_002451.3:c.121-185A>G | NP_002442.2:n.121-185A>G | |
| NM_002451.4:c.121-185A>G MANE Select | NP_002442.2:n.121-185A>G | |
| NM_001396040.1:c.172-185A>G | NP_001382969.1:n.172-185A>G | |
| NM_001396041.1:c.121-185A>G | NP_001382970.1:n.121-185A>G | |
| NM_001396042.1:c.121-185A>G | NP_001382971.1:n.121-185A>G | |
| NM_001396043.1:c.121-185A>G | NP_001382972.1:n.121-185A>G | |
| NM_001396044.1:c.121-185A>G | NP_001382973.1:n.121-185A>G | |
| NM_001396045.1:c.121-185A>G | NP_001382974.1:n.121-185A>G | |
| NR_173242.1:n.234-185A>G |