Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.32598525G= , CM000681.2:g.32598525G= | GRCh38 |
| NC_000019.9:g.33089431G= , CM000681.1:g.33089431G= | GRCh37 |
| NC_000019.8:g.37781271G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032139.3:c.2920-147C= MANE Select | NP_115515.2:n.2920-147C= |
| ENST00000306065.9:c.2920-147C= MANE Select | ENSP00000304292.3:n.2920-147C= |
| NM_032139.2:c.2920-147C= | NP_115515.2:n.2920-147C= |
| ENST00000306065.8:c.2920-147C= | ENSP00000304292.3:n.2920-147C= |
| ENST00000587667.1:n.389-147C= | |
| XM_005259310.2:c.2332-147C= | XP_005259367.1:n.2332-147C= |
| XM_006723412.2:c.2920-147C= | XP_006723475.1:n.2920-147C= |
| XM_017027349.1:c.2332-147C= | XP_016882838.1:n.2332-147C= |