Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.85277735C>A , CM000685.2:g.85277735C>A | GRCh38 |
| NC_000023.10:g.84532741C>A , CM000685.1:g.84532741C>A | GRCh37 |
| NC_000023.9:g.84419397C>A | NCBI36 |
| NG_016358.1:g.107008G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024921.4:c.*1686G>T MANE Select | NP_079197.3:n.*1686G>T |
| ENST00000262753.9:c.*1686G>T MANE Select | ENSP00000262753.4:n.*1686G>T |
| NM_024921.3:c.*1686G>T | NP_079197.3:n.*1686G>T |
| ENST00000262753.8:c.*1686G>T | ENSP00000262753.4:n.*1686G>T |
| XM_005262203.2:c.*1686G>T | XP_005262260.1:n.*1686G>T |
| XM_005262203.4:c.*1686G>T | XP_005262260.1:n.*1686G>T |