Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32815309A>G , CM000668.2:g.32815309A>G | GRCh38 |
| NC_000006.11:g.32783086A>G , CM000668.1:g.32783086A>G | GRCh37 |
| NC_000006.10:g.32891064A>G | NCBI36 |
| NG_009793.3:g.28462T>C | |
| NG_012008.1:g.6740T>C | |
| NG_009793.4:g.28462T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002120.4:c.96T>C MANE Select | NP_002111.1:p.Asp32= |
| ENST00000438763.7:c.96T>C MANE Select | ENSP00000390020.2:p.Asp32= |
| NM_002120.3:c.96T>C | NP_002111.1:p.Asp32= |
| ENST00000438763.6:c.96T>C | ENSP00000390020.2:p.Asp32= |
| ENST00000447394.1:c.55T>C | |
| ENST00000452392.2:c.2025-108T>C | ENSP00000391806.2:n.2025-108T>C |
| ENST00000475235.1:n.133T>C | |
| ENST00000488325.5:c.92-108T>C | ENSP00000436618.1:n.92-108T>C |
| ENST00000648009.1:c.96T>C | ENSP00000496848.1:p.Asp32= |