Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23285188T= , CM000684.2:g.23285188T= | GRCh38 |
| NC_000022.10:g.23627375T= , CM000684.1:g.23627375T= | GRCh37 |
| NC_000022.9:g.21957375T= | NCBI36 |
| NG_009244.1:g.109824T= | |
| NG_009244.2:g.109824T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000305877.13:c.2393T= MANE Select | ENSP00000303507.8:p.Ile798= | |
| ENST00000305877.12:c.2393T= | ENSP00000303507.8:p.Ile798= | |
| ENST00000359540.7:c.2393T= | ENSP00000352535.3:p.Ile798= | |
| ENST00000398512.9:c.1270-2956T= | ENSP00000381524.6:n.1270-2956T= | |
| ENST00000466076.1:n.467T= | ||
| ENST00000487968.5:n.1046T= | ||
| NM_004327.3:c.2393T= | NP_004318.3:p.Ile798= | |
| NM_021574.2:c.2393T= | NP_067585.2:p.Ile798= | |
| NM_004327.4:c.2393T= MANE Select | NP_004318.3:p.Ile798= | |
| NM_021574.3:c.2393T= | NP_067585.2:p.Ile798= |