Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151101106T= , CM000667.2:g.151101106T= | GRCh38 |
| NC_000005.9:g.150480667T= , CM000667.1:g.150480667T= | GRCh37 |
| NC_000005.8:g.150460860T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354546.10:c.*342A= MANE Select | ENSP00000346550.5:n.*342A= | |
| ENST00000354546.9:c.*342A= | ENSP00000346550.5:n.*342A= | |
| ENST00000522664.5:c.201-144A= | ||
| NM_001155.4:c.*342A= | NP_001146.2:n.*342A= | |
| NM_001193544.1:c.*342A= | NP_001180473.1:n.*342A= | |
| XM_005268432.3:c.*342A= | XP_005268489.1:n.*342A= | |
| NM_001363114.1:c.*342A= | NP_001350043.1:n.*342A= | |
| NM_001155.5:c.*342A= MANE Select | NP_001146.2:n.*342A= | |
| NM_001193544.2:c.*342A= | NP_001180473.1:n.*342A= | |
| NM_001363114.2:c.*342A= | NP_001350043.1:n.*342A= |