Linked Data
ClinVar Variation Id:
103338
ClinVar RCV Id:
RCV000089598
dbSNP Id:
rs199476232
ExAC:
11:7984713 C / A
gnomAD v2:
11-7984713-C-A
gnomAD v3:
11-7963166-C-A
gnomAD v4:
11-7963166-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.7963166C>A , CM000673.2:g.7963166C>A | GRCh38 |
| NC_000011.9:g.7984713C>A , CM000673.1:g.7984713C>A | GRCh37 |
| NC_000011.8:g.7941289C>A | NCBI36 |
| NG_046899.1:g.7259G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691676.1:c.289+41G>T MANE Select | ENSP00000509542.1:n.289+41G>T | |
| ENST00000328600.3:c.289+41G>T | ENSP00000327763.2:n.289+41G>T | |
| ENST00000328600.2:c.289+41G>T | ENSP00000327763.2:n.289+41G>T | |
| NM_176821.3:c.289+41G>T | NP_789791.1:n.289+41G>T | |
| XM_011520043.1:c.289+41G>T | XP_011518345.1:n.289+41G>T | |
| XM_011520043.3:c.289+41G>T | XP_011518345.1:n.289+41G>T | |
| NM_176821.4:c.289+41G>T | NP_789791.1:n.289+41G>T | |
| NM_001391958.1:c.289+41G>T MANE Select | NP_001378887.1:n.289+41G>T |