Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49644521G= , CM000681.2:g.49644521G= | GRCh38 |
| NC_000019.9:g.50147778G= , CM000681.1:g.50147778G= | GRCh37 |
| NC_000019.8:g.54839590G= | NCBI36 |
| NG_042222.1:g.623C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021228.3:c.-6-500G= MANE Select | NP_067051.2:n.-6-500G= |
| ENST00000360565.8:c.-6-500G= MANE Select | ENSP00000353769.2:n.-6-500G= |
| NM_021228.2:c.-6-500G= | NP_067051.2:n.-6-500G= |
| ENST00000360565.7:c.-6-500G= | ENSP00000353769.2:n.-6-500G= |
| ENST00000598359.5:c.-6-500G= | ENSP00000473210.1:n.-6-500G= |
| XM_005259122.3:c.-6-500G= | XP_005259179.1:n.-6-500G= |
| XM_005259122.5:c.-6-500G= | XP_005259179.1:n.-6-500G= |
| XM_011527194.1:c.4-500G= | XP_011525496.1:n.4-500G= |
| XM_011527194.3:c.4-500G= | XP_011525496.1:n.4-500G= |