Linked Data
dbSNP Id:
rs12148477
gnomAD v2:
15-51653119-A-G
gnomAD v3:
15-51360922-A-G
gnomAD v4:
15-51360922-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.51360922A>G , CM000677.2:g.51360922A>G | GRCh38 |
| NC_000015.9:g.51653119A>G , CM000677.1:g.51653119A>G | GRCh37 |
| NC_000015.8:g.49440411A>G | NCBI36 |
| NG_054933.1:g.24407A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000335449.11:c.364-16527A>G MANE Select | ENSP00000335196.6:n.364-16527A>G | |
| ENST00000335449.10:c.364-16527A>G | ENSP00000335196.6:n.364-16527A>G | |
| ENST00000558286.5:n.174+18875A>G | ||
| ENST00000559317.5:n.284+385A>G | ||
| ENST00000560215.5:c.251-16527A>G | ||
| ENST00000560690.5:n.141-16527A>G | ||
| NM_181789.2:c.364-16527A>G | NP_861454.2:n.364-16527A>G | |
| NM_181789.3:c.364-16527A>G | NP_861454.2:n.364-16527A>G | |
| XM_017022121.1:c.364-16527A>G | XP_016877610.1:n.364-16527A>G | |
| XM_017022122.2:c.-10+385A>G | XP_016877611.1:n.-10+385A>G | |
| XM_017022124.2:c.-9-16527A>G | XP_016877613.1:n.-9-16527A>G | |
| XM_017022125.1:c.364-16527A>G | XP_016877614.1:n.364-16527A>G | |
| XM_017022126.2:c.-9-16527A>G | XP_016877615.1:n.-9-16527A>G | |
| NM_181789.4:c.364-16527A>G MANE Select | NP_861454.2:n.364-16527A>G |