Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74920142T= , CM000679.2:g.74920142T= | GRCh38 |
| NC_000017.10:g.72916237T= , CM000679.1:g.72916237T= | GRCh37 |
| NC_000017.9:g.70427832T= | NCBI36 |
| NG_007882.1:g.8115A= | |
| NG_033062.1:g.868T= | |
| NG_007882.2:g.8122A= | |
| NG_033062.2:g.868T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614341.5:c.694A= MANE Select | ENSP00000480279.1:p.Lys232= | |
| ENST00000579243.1:c.*293A= | ENSP00000462568.1:n.*293A= | |
| ENST00000614341.4:c.694A= | ENSP00000480279.1:p.Lys232= | |
| NM_001282489.2:c.385A= | NP_001269418.1:p.Lys129= | |
| NM_173477.4:c.694A= | NP_775748.2:p.Lys232= | |
| XM_011524296.1:c.385A= | XP_011522598.1:p.Lys129= | |
| XM_011524296.2:c.385A= | XP_011522598.1:p.Lys129= | |
| NM_173477.5:c.694A= MANE Select | NP_775748.2:p.Lys232= | |
| NM_001282489.3:c.385A= | NP_001269418.1:p.Lys129= |