Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10876011C>T , CM000668.2:g.10876011C>T | GRCh38 |
| NC_000006.11:g.10876244C>T , CM000668.1:g.10876244C>T | GRCh37 |
| NC_000006.10:g.10984230C>T | NCBI36 |
| NG_008970.1:g.10855G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379491.5:c.462G>A MANE Select | ENSP00000368805.4:p.Lys154= | |
| ENST00000379491.4:c.462G>A | ENSP00000368805.4:p.Lys154= | |
| ENST00000480294.1:c.101-15502C>T | ENSP00000417929.1:n.101-15502C>T | |
| NM_004752.3:c.462G>A | NP_004743.1:p.Lys154= | |
| XM_011514991.1:c.462G>A | XP_011513293.1:p.Lys154= | |
| NM_004752.4:c.462G>A MANE Select | NP_004743.1:p.Lys154= |