Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114785409T= , CM000671.2:g.114785409T= | GRCh38 |
| NC_000009.11:g.117547689T= , CM000671.1:g.117547689T= | GRCh37 |
| NC_000009.10:g.116587510T= | NCBI36 |
| NG_011488.2:g.25720A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374045.5:c.*5043A= MANE Select | ENSP00000363157.3:n.*5043A= | |
| ENST00000374045.4:c.*5043A= | ENSP00000363157.3:n.*5043A= | |
| NM_001204344.1:c.5622A= | NP_001191273.1:n.5622A= | |
| NM_005118.3:c.*5043A= | NP_005109.2:n.*5043A= | |
| NM_005118.4:c.*5043A= MANE Select | NP_005109.2:n.*5043A= |