dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.104747771T>A , CM000685.2:g.104747771T>A | GRCh38 |
| NC_000023.10:g.103992452T>A , CM000685.1:g.103992452T>A | GRCh37 |
| NC_000023.9:g.103879108T>A | NCBI36 |
| NG_012566.2:g.186457T>A | |
| NG_012566.3:g.186457T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372582.6:c.82+88776T>A MANE Select | ENSP00000361663.1:n.82+88776T>A | |
| ENST00000372582.5:c.82+88776T>A | ENSP00000361663.1:n.82+88776T>A | |
| NM_017416.1:c.82+88776T>A | NP_059112.1:n.82+88776T>A | |
| XM_011530906.1:c.82+88776T>A | XP_011529208.1:n.82+88776T>A | |
| NM_017416.2:c.82+88776T>A MANE Select | NP_059112.1:n.82+88776T>A |