Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186085426G>A , CM000666.2:g.186085426G>A | GRCh38 |
| NC_000004.11:g.187006580G>A , CM000666.1:g.187006580G>A | GRCh37 |
| NC_000004.10:g.187243574G>A | NCBI36 |
| NG_007278.1:g.21272G>A , LRG_117:g.21272G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698352.1:c.*2820G>A | ENSP00000513675.1:n.*2820G>A | |
| ENST00000698353.1:n.3143G>A | ||
| ENST00000698354.1:c.*553G>A | ENSP00000513676.1:n.*553G>A | |
| ENST00000296795.8:c.*553G>A MANE Select | ENSP00000296795.3:n.*553G>A | |
| ENST00000296795.7:c.*553G>A | ENSP00000296795.2:n.*553G>A | |
| NM_003265.3:c.*553G>A MANE Select | NP_003256.1:n.*553G>A |