Linked Data
dbSNP Id:
rs539601511
gnomAD v2:
2-241814725-C-A
gnomAD v3:
2-240875308-C-A
gnomAD v4:
2-240875308-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240875308C>A , CM000664.2:g.240875308C>A | GRCh38 |
| NC_000002.11:g.241814725C>A , CM000664.1:g.241814725C>A | GRCh37 |
| NC_000002.10:g.241463398C>A | NCBI36 |
| NG_008005.1:g.11564C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.776+104C>A MANE Select | ENSP00000302620.3:n.776+104C>A | |
| ENST00000307503.3:c.776+104C>A | ENSP00000302620.3:n.776+104C>A | |
| ENST00000476698.1:n.428+104C>A | ||
| NM_000030.2:c.776+104C>A | NP_000021.1:n.776+104C>A | |
| NM_000030.3:c.776+104C>A MANE Select | NP_000021.1:n.776+104C>A |