Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101229510G>C , CM000665.2:g.101229510G>C | GRCh38 |
| NC_000003.11:g.100948354G>C , CM000665.1:g.100948354G>C | GRCh37 |
| NC_000003.10:g.102431044G>C | NCBI36 |
| NG_028284.1:g.96066C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016247.4:c.3503C>G MANE Select | NP_057331.2:p.Ala1168Gly |
| ENST00000193391.8:c.3503C>G MANE Select | ENSP00000193391.6:p.Ala1168Gly |
| NM_016247.3:c.3503C>G | NP_057331.2:p.Ala1168Gly |
| ENST00000193391.7:c.3503C>G | ENSP00000193391.6:p.Ala1168Gly |
| XM_011512871.1:c.3209C>G | XP_011511173.1:p.Ala1070Gly |
| XM_011512872.1:c.3092C>G | XP_011511174.1:p.Ala1031Gly |