Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1394307T= , CM000667.2:g.1394307T= | GRCh38 |
| NC_000005.9:g.1394422T= , CM000667.1:g.1394422T= | GRCh37 |
| NC_000005.8:g.1447422T= | NCBI36 |
| NG_015885.1:g.56122A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000270349.12:c.*428A= MANE Select | ENSP00000270349.9:n.*428A= | |
| ENST00000270349.11:c.*428A= | ENSP00000270349.9:n.*428A= | |
| ENST00000512002.2:n.672A= | ||
| NM_001044.4:c.*428A= | NP_001035.1:n.*428A= | |
| NM_001044.5:c.*428A= MANE Select | NP_001035.1:n.*428A= |