Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219218505C= , CM000664.2:g.219218505C= | GRCh38 |
| NC_000002.11:g.220083227C= , CM000664.1:g.220083227C= | GRCh37 |
| NC_000002.10:g.219791471C= | NCBI36 |
| NG_032110.1:g.5486G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005689.4:c.169G= (ABCB6) MANE Select | NP_005680.1:p.Ala57= |
| ENST00000265316.9:c.169G= (ABCB6) MANE Select | ENSP00000265316.3:p.Ala57= |
| NM_001349828.1:c.169G= (ABCB6) | NP_001336757.1:p.Ala57= |
| NM_001349828.2:c.169G= (ABCB6) | NP_001336757.1:p.Ala57= |
| NM_005689.2:c.169G= (ABCB6) | NP_005680.1:p.Ala57= |
| NM_005689.3:c.169G= (ABCB6) | NP_005680.1:p.Ala57= |
| ENST00000265316.7:c.169G= (ABCB6) | ENSP00000265316.3:p.Ala57= |
| ENST00000295750.5:c.169G= (ABCB6) | ENSP00000295750.5:p.Ala57= |
| ENST00000446716.5:c.2708G= (ATG9A) |