Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954131G= , CM000670.2:g.19954131G= | GRCh38 |
| NC_000008.10:g.19811642G= , CM000670.1:g.19811642G= | GRCh37 |
| NC_000008.9:g.19855922G= | NCBI36 |
| NG_008855.1:g.20061G= | |
| NG_008855.2:g.57415G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.553G= MANE Select | ENSP00000497642.1:p.Ala185= | |
| ENST00000311322.8:c.553G= | ENSP00000309757.6:p.Ala185= | |
| ENST00000520959.5:c.325G= | ENSP00000428496.1:p.Ala109= | |
| NM_000237.2:c.553G= | NP_000228.1:p.Ala185= | |
| NM_000237.3:c.553G= MANE Select | NP_000228.1:p.Ala185= |