Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114790969T= , CM000671.2:g.114790969T= | GRCh38 |
| NC_000009.11:g.117553249T= , CM000671.1:g.117553249T= | GRCh37 |
| NC_000009.10:g.116593070T= | NCBI36 |
| NG_011488.2:g.20160A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005118.4:c.302-63A= MANE Select | NP_005109.2:n.302-63A= |
| ENST00000374045.5:c.302-63A= MANE Select | ENSP00000363157.3:n.302-63A= |
| NM_001204344.1:c.125-63A= | NP_001191273.1:n.125-63A= |
| NM_005118.3:c.302-63A= | NP_005109.2:n.302-63A= |
| ENST00000374044.1:c.8A= | ENSP00000363156.1:p.His3= |
| ENST00000374045.4:c.302-63A= | ENSP00000363157.3:n.302-63A= |