Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.130164035A>G , CM000674.2:g.130164035A>G | GRCh38 |
| NC_000012.11:g.130648580A>G , CM000674.1:g.130648580A>G | GRCh37 |
| NC_000012.10:g.129214533A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_007197.4:c.1093A>G MANE Select | NP_009128.1:p.Lys365Glu |
| ENST00000229030.5:c.1093A>G MANE Select | ENSP00000229030.4:p.Lys365Glu |
| NM_007197.3:c.1093A>G | NP_009128.1:p.Lys365Glu |
| ENST00000229030.4:c.1093A>G | ENSP00000229030.4:p.Lys365Glu |
| ENST00000539839.1:c.995A>G | ENSP00000438460.1:p.Glu332Gly |