Linked Data
ClinVar Variation Id:
304966
dbSNP Id:
rs73459751
ExAC:
11:47459319 G / T
gnomAD v2:
11-47459319-G-T
gnomAD v3:
11-47437768-G-T
gnomAD v4:
11-47437768-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47437768G>T , CM000673.2:g.47437768G>T | GRCh38 |
| NC_000011.9:g.47459319G>T , CM000673.1:g.47459319G>T | GRCh37 |
| NC_000011.8:g.47415895G>T | NCBI36 |
| NG_008312.1:g.16412C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298854.7:c.*207C>A MANE Select | ENSP00000298854.2:n.*207C>A | |
| ENST00000298854.6:c.*207C>A | ENSP00000298854.2:n.*207C>A | |
| ENST00000352508.7:c.*207C>A | ENSP00000298853.3:n.*207C>A | |
| ENST00000524487.5:c.*207C>A | ENSP00000435551.2:n.*207C>A | |
| ENST00000528356.1:n.401C>A | ||
| NM_005055.4:c.*207C>A | NP_005046.2:n.*207C>A | |
| NM_032645.4:c.*207C>A | NP_116034.2:n.*207C>A | |
| XM_011520252.1:c.*19C>A | XP_011518554.1:n.*19C>A | |
| NM_005055.5:c.*207C>A MANE Select | NP_005046.2:n.*207C>A | |
| NM_032645.5:c.*207C>A | NP_116034.2:n.*207C>A |