Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.8059467T>C , CM000674.2:g.8059467T>C | GRCh38 |
| NC_000012.11:g.8212063T>C , CM000674.1:g.8212063T>C | GRCh37 |
| NC_000012.10:g.8103330T>C | NCBI36 |
| NG_050736.1:g.12005A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004054.4:c.719A>G MANE Select | NP_004045.1:p.Asp240Gly |
| ENST00000307637.5:c.719A>G MANE Select | ENSP00000302079.4:p.Asp240Gly |
| NM_001326475.1:c.719A>G | NP_001313404.1:p.Asp240Gly |
| NM_001326475.2:c.719A>G | NP_001313404.1:p.Asp240Gly |
| NM_001326477.1:c.719A>G | NP_001313406.1:p.Asp240Gly |
| NM_001326477.2:c.719A>G | NP_001313406.1:p.Asp240Gly |
| NM_004054.2:c.719A>G | NP_004045.1:p.Asp240Gly |
| NM_004054.3:c.719A>G | NP_004045.1:p.Asp240Gly |
| ENST00000307637.4:c.719A>G | ENSP00000302079.4:p.Asp240Gly |