Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148994683A= , CM000667.2:g.148994683A= | GRCh38 |
| NC_000005.9:g.148374246A= , CM000667.1:g.148374246A= | GRCh37 |
| NC_000005.8:g.148354439A= | NCBI36 |
| NG_007947.2:g.73492T= , LRG_269:g.73492T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000515425.6:c.*10028T= MANE Select | ENSP00000423660.1:n.*10028T= | |
| ENST00000504690.5:c.*12+9043T= | ENSP00000425627.1:n.*12+9043T= | |
| ENST00000510350.1:n.231+12198T= | ||
| NM_024577.3:c.*10028T= , LRG_269t1:c.*10028T= | NP_078853.2:n.*10028T= | |
| NM_024577.4:c.*10028T= MANE Select | NP_078853.2:n.*10028T= |