Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7533991T= , CM000681.2:g.7533991T= | GRCh38 |
| NC_000019.9:g.7598877T= , CM000681.1:g.7598877T= | GRCh37 |
| NC_000019.8:g.7504877T= | NCBI36 |
| NG_013374.1:g.4840T= | |
| NG_015806.1:g.16382T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.*196T= MANE Select | ENSP00000264079.5:n.*196T= | |
| ENST00000264079.10:c.*196T= | ENSP00000264079.5:n.*196T= | |
| ENST00000601870.1:c.169+123T= | ||
| NM_020533.2:c.*196T= | NP_065394.1:n.*196T= | |
| NM_020533.3:c.*196T= MANE Select | NP_065394.1:n.*196T= |