Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.106034278T= , CM000685.2:g.106034278T= | GRCh38 |
| NC_000023.10:g.105278269T= , CM000685.1:g.105278269T= | GRCh37 |
| NC_000023.9:g.105164925T= | NCBI36 |
| NG_021252.1:g.9450A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372563.2:c.1001A= MANE Select | ENSP00000361644.1:p.Asp334= | |
| ENST00000327674.8:c.1001A= | ENSP00000329374.4:p.Asp334= | |
| ENST00000372563.1:c.1001A= | ENSP00000361644.1:p.Asp334= | |
| ENST00000487487.1:n.274A= | ||
| NM_000354.5:c.1001A= | NP_000345.2:p.Asp334= | |
| XM_005262180.3:c.1001A= | XP_005262237.1:p.Asp334= | |
| XM_006724683.1:c.1001A= | XP_006724746.1:p.Asp334= | |
| XM_005262180.4:c.1001A= | XP_005262237.1:p.Asp334= | |
| XM_006724683.2:c.1001A= | XP_006724746.1:p.Asp334= | |
| NM_000354.6:c.1001A= MANE Select | NP_000345.2:p.Asp334= |