Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.106033647G>A , CM000685.2:g.106033647G>A | GRCh38 |
| NC_000023.10:g.105277638G>A , CM000685.1:g.105277638G>A | GRCh37 |
| NC_000023.9:g.105164294G>A | NCBI36 |
| NG_021252.1:g.10081C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372563.2:c.1101C>T MANE Select | ENSP00000361644.1:p.Val367= | |
| ENST00000327674.8:c.1101C>T | ENSP00000329374.4:p.Val367= | |
| ENST00000372563.1:c.1101C>T | ENSP00000361644.1:p.Val367= | |
| NM_000354.5:c.1101C>T | NP_000345.2:p.Val367= | |
| XM_005262180.3:c.*46C>T | XP_005262237.1:n.*46C>T | |
| XM_006724683.1:c.1131C>T | XP_006724746.1:p.Val377= | |
| XM_005262180.4:c.*46C>T | XP_005262237.1:n.*46C>T | |
| XM_006724683.2:c.1131C>T | XP_006724746.1:p.Val377= | |
| NM_000354.6:c.1101C>T MANE Select | NP_000345.2:p.Val367= |