Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240878744G= , CM000664.2:g.240878744G= | GRCh38 |
| NC_000002.11:g.241818161G= , CM000664.1:g.241818161G= | GRCh37 |
| NC_000002.10:g.241466834G= | NCBI36 |
| NG_008005.1:g.15000G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000030.3:c.1102G= MANE Select | NP_000021.1:p.Ala368= |
| ENST00000307503.4:c.1102G= MANE Select | ENSP00000302620.3:p.Ala368= |
| NM_000030.2:c.1102G= | NP_000021.1:p.Ala368= |
| ENST00000307503.3:c.1102G= | ENSP00000302620.3:p.Ala368= |
| ENST00000470255.1:n.880G= |