Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114804160A= , CM000671.2:g.114804160A= | GRCh38 |
| NC_000009.11:g.117566440A= , CM000671.1:g.117566440A= | GRCh37 |
| NC_000009.10:g.116606261A= | NCBI36 |
| NG_011488.2:g.6969T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005118.4:c.210+1643T= MANE Select | NP_005109.2:n.210+1643T= |
| ENST00000374045.5:c.210+1643T= MANE Select | ENSP00000363157.3:n.210+1643T= |
| NM_005118.3:c.210+1643T= | NP_005109.2:n.210+1643T= |
| ENST00000374045.4:c.210+1643T= | ENSP00000363157.3:n.210+1643T= |