Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.223053265T>C , CM000664.2:g.223053265T>C | GRCh38 |
| NC_000002.11:g.223917983T>C , CM000664.1:g.223917983T>C | GRCh37 |
| NC_000002.10:g.223626227T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000281830.4:c.435T>C MANE Select | ENSP00000281830.5:p.Asp145= | |
| ENST00000281830.3:c.588T>C | ENSP00000281830.4:p.Asp196= | |
| ENST00000488477.2:n.75+991T>C | ||
| NM_080671.3:c.588T>C | NP_542402.3:p.Asp196= | |
| NM_080671.4:c.435T>C MANE Select | NP_542402.4:p.Asp145= |