Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013344C= , CM000685.2:g.25013344C= | GRCh38 |
| NC_000023.10:g.25031461C= , CM000685.1:g.25031461C= | GRCh37 |
| NC_000023.9:g.24941382C= | NCBI36 |
| NG_008281.1:g.7605G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379044.5:c.651G= MANE Select | ENSP00000368332.4:p.Ala217= | |
| ENST00000379044.4:c.651G= | ENSP00000368332.4:p.Ala217= | |
| NM_139058.2:c.651G= | NP_620689.1:p.Ala217= | |
| NM_139058.3:c.651G= MANE Select | NP_620689.1:p.Ala217= |