Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18400145A>G , CM000670.2:g.18400145A>G | GRCh38 |
| NC_000008.10:g.18257655A>G , CM000670.1:g.18257655A>G | GRCh37 |
| NC_000008.9:g.18301935A>G | NCBI36 |
| NG_012246.1:g.13901A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286479.4:c.142A>G MANE Select | ENSP00000286479.3:p.Met48Val | |
| ENST00000286479.3:c.142A>G | ENSP00000286479.3:p.Met48Val | |
| ENST00000520116.1:c.-57-192A>G | ENSP00000428416.1:n.-57-192A>G | |
| NM_000015.2:c.142A>G | NP_000006.2:p.Met48Val | |
| XM_011544358.1:c.142A>G | XP_011542660.1:p.Met48Val | |
| XM_017012938.1:c.142A>G | XP_016868427.1:p.Met48Val | |
| NM_000015.3:c.142A>G MANE Select | NP_000006.2:p.Met48Val |