Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.34256292G= , CM000679.2:g.34256292G= | GRCh38 |
| NC_000017.10:g.32583311G= , CM000679.1:g.32583311G= | GRCh37 |
| NC_000017.9:g.29607424G= | NCBI36 |
| NG_012123.1:g.6016G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000580907.6:c.147G= | ENSP00000462156.1:p.Ala49= | |
| ENST00000624362.2:n.1008G= | ||
| ENST00000225831.4:c.147G= MANE Select | ENSP00000225831.4:p.Ala49= | |
| ENST00000580907.5:c.147G= | ENSP00000462156.1:p.Ala49= | |
| ENST00000582017.1:n.85G= | ||
| NM_002982.3:c.147G= | NP_002973.1:p.Ala49= | |
| NM_002982.4:c.147G= MANE Select | NP_002973.1:p.Ala49= |