Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52187159G= , CM000668.2:g.52187159G= | GRCh38 |
| NC_000006.11:g.52051957G= , CM000668.1:g.52051957G= | GRCh37 |
| NC_000006.10:g.52159916G= | NCBI36 |
| NG_033021.1:g.5773G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002190.3:c.28-444G= MANE Select | NP_002181.1:n.28-444G= |
| ENST00000648244.1:c.28-444G= MANE Select | ENSP00000497968.1:n.28-444G= |
| NM_002190.2:c.28-444G= | NP_002181.1:n.28-444G= |
| ENST00000340057.1:c.28-444G= | ENSP00000344192.1:n.28-444G= |