Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160738593G= , CM000668.2:g.160738593G= | GRCh38 |
| NC_000006.11:g.161159625G= , CM000668.1:g.161159625G= | GRCh37 |
| NC_000006.10:g.161079615G= | NCBI36 |
| NG_016200.1:g.41401G= , LRG_571:g.41401G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297289.9:c.811G= | ENSP00000516619.1:p.Ala271= | |
| ENST00000418964.2:c.1909G= | ENSP00000389424.2:p.Ala637= | |
| ENST00000706906.1:c.*1878G= | ENSP00000516618.1:n.*1878G= | |
| ENST00000308192.14:c.1858G= MANE Select | ENSP00000308938.9:p.Ala620= | |
| ENST00000308192.13:c.1858G= | ENSP00000308938.9:p.Ala620= | |
| ENST00000467466.1:n.159G= | ||
| NM_000301.3:c.1858G= , LRG_571t1:c.1858G= | NP_000292.1:p.Ala620= | |
| NM_000301.4:c.1858G= | NP_000292.1:p.Ala620= | |
| NM_000301.5:c.1858G= MANE Select | NP_000292.1:p.Ala620= |