Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.89606042T>G , CM000671.2:g.89606042T>G | GRCh38 |
| NC_000009.11:g.92220957T>G , CM000671.1:g.92220957T>G | GRCh37 |
| NC_000009.10:g.91410777T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006705.4:c.443T>G MANE Select | NP_006696.1:p.Val148Gly |
| ENST00000252506.11:c.443T>G MANE Select | ENSP00000252506.6:p.Val148Gly |
| NM_006705.3:c.443T>G | NP_006696.1:p.Val148Gly |
| ENST00000252506.10:c.443T>G | ENSP00000252506.6:p.Val148Gly |
| ENST00000375769.1:c.389T>G | ENSP00000364924.1:p.Val130Gly |
| ENST00000494726.1:n.639T>G | |
| XM_011518163.1:c.341T>G | XP_011516465.1:p.Val114Gly |
| XM_011518163.2:c.341T>G | XP_011516465.1:p.Val114Gly |