Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101429851A= , CM000671.2:g.101429851A= | GRCh38 |
| NC_000009.11:g.104192133A= , CM000671.1:g.104192133A= | GRCh37 |
| NC_000009.10:g.103231954A= | NCBI36 |
| NG_012387.1:g.10930T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647789.2:c.228T= MANE Select | ENSP00000497767.1:p.Gly76= | |
| ENST00000648064.1:c.228T= | ENSP00000497990.1:p.Gly76= | |
| ENST00000648758.1:c.228T= | ENSP00000497731.1:p.Gly76= | |
| ENST00000648906.1:n.398T= | ||
| ENST00000649902.1:c.228T= | ENSP00000497216.1:p.Gly76= | |
| ENST00000650613.1:n.304T= | ||
| ENST00000374855.8:c.228T= | ENSP00000363988.4:p.Gly76= | |
| ENST00000468981.3:n.25T= | ||
| ENST00000616752.1:c.228T= | ENSP00000481363.1:p.Gly76= | |
| NM_000035.3:c.228T= | NP_000026.2:p.Gly76= | |
| NM_000035.4:c.228T= MANE Select | NP_000026.2:p.Gly76= |