dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.509717C>A , CM000681.2:g.509717C>A | GRCh38 |
| NC_000019.9:g.509717C>A , CM000681.1:g.509717C>A | GRCh37 |
| NC_000019.8:g.460717C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359315.6:c.338+1873C>A MANE Select | ENSP00000352265.4:n.338+1873C>A | |
| ENST00000588278.1:n.2218C>A | ||
| NM_033513.2:c.338+1873C>A | NP_277048.2:n.338+1873C>A | |
| NM_033513.3:c.338+1873C>A MANE Select | NP_277048.2:n.338+1873C>A |