Linked Data
dbSNP Id:
rs910211490
gnomAD v2:
16-57447355-C-A
gnomAD v3:
16-57413443-C-A
gnomAD v4:
16-57413443-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.57413443C>A , CM000678.2:g.57413443C>A | GRCh38 |
| NC_000016.9:g.57447355C>A , CM000678.1:g.57447355C>A | GRCh37 |
| NC_000016.8:g.56004856C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219244.9:c.-59-431C>A MANE Select | ENSP00000219244.4:n.-59-431C>A | |
| ENST00000219244.8:c.-59-431C>A | ENSP00000219244.4:n.-59-431C>A | |
| NM_002987.2:c.-59-431C>A | NP_002978.1:n.-59-431C>A | |
| XM_011523256.1:c.26-431C>A | XP_011521558.1:n.26-431C>A | |
| XM_011523256.2:c.26-431C>A | XP_011521558.1:n.26-431C>A | |
| XM_017023530.1:c.26-428C>A | XP_016879019.1:n.26-428C>A | |
| NM_002987.3:c.-59-431C>A MANE Select | NP_002978.1:n.-59-431C>A |