Linked Data
ClinVar Variation Id:
317977
ClinVar RCV Id:
RCV000381047
dbSNP Id:
rs886051706
gnomAD v4:
16-1510718-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1510718A>C , CM000678.2:g.1510718A>C | GRCh38 |
| NC_000016.9:g.1560719A>C , CM000678.1:g.1560719A>C | GRCh37 |
| NC_000016.8:g.1500720A>C | NCBI36 |
| NG_032783.1:g.106391T>G | |
| NG_050910.1:g.22375A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000426508.7:c.*226T>G MANE Select | ENSP00000406012.2:n.*226T>G | |
| ENST00000361339.9:c.*226T>G | ENSP00000354895.5:n.*226T>G | |
| ENST00000397417.6:c.*3053T>G | ENSP00000380562.2:n.*3053T>G | |
| ENST00000426508.6:c.*226T>G | ENSP00000406012.2:n.*226T>G | |
| ENST00000565298.5:n.4439T>G | ||
| NM_014714.3:c.*226T>G | NP_055529.2:n.*226T>G | |
| XM_006720989.2:c.*226T>G | XP_006721052.1:n.*226T>G | |
| XM_006720990.2:c.*226T>G | XP_006721053.1:n.*226T>G | |
| XM_006720991.2:c.*226T>G | XP_006721054.1:n.*226T>G | |
| XM_006720992.2:c.*226T>G | XP_006721055.1:n.*226T>G | |
| XM_011522766.1:c.*226T>G | XP_011521068.1:n.*226T>G | |
| XM_011522767.1:c.*226T>G | XP_011521069.1:n.*226T>G | |
| XM_006720990.3:c.*226T>G | XP_006721053.1:n.*226T>G | |
| XM_006720991.3:c.*226T>G | XP_006721054.1:n.*226T>G | |
| XM_006720992.3:c.*226T>G | XP_006721055.1:n.*226T>G | |
| XM_011522766.3:c.*226T>G | XP_011521068.1:n.*226T>G | |
| XM_011522767.2:c.*226T>G | XP_011521069.1:n.*226T>G | |
| XM_017023910.1:c.*226T>G | XP_016879399.1:n.*226T>G | |
| XM_017023911.1:c.*226T>G | XP_016879400.1:n.*226T>G | |
| NM_014714.4:c.*226T>G MANE Select | NP_055529.2:n.*226T>G |