Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6145630G= , CM000668.2:g.6145630G= | GRCh38 |
| NC_000006.11:g.6145863G= , CM000668.1:g.6145863G= | GRCh37 |
| NC_000006.10:g.6090862G= | NCBI36 |
| NG_008107.1:g.180062C= , LRG_549:g.180062C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264870.8:c.2188C= MANE Select | ENSP00000264870.3:p.Pro730= | |
| ENST00000264870.7:c.2188C= | ENSP00000264870.3:p.Pro730= | |
| NM_000129.3:c.2188C= , LRG_549t1:c.2188C= | NP_000120.2:p.Pro730= | |
| XM_006715010.2:c.2188C= | XP_006715073.1:p.Pro730= | |
| XM_011514342.1:c.2350C= | XP_011512644.1:p.Pro784= | |
| NM_000129.4:c.2188C= MANE Select | NP_000120.2:p.Pro730= |