Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.133959793T>C , CM000667.2:g.133959793T>C | GRCh38 |
| NC_000005.9:g.133295484T>C , CM000667.1:g.133295484T>C | GRCh37 |
| NC_000005.8:g.133323383T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020199.3:c.367A>G MANE Select | NP_064584.1:p.Ser123Gly |
| ENST00000231512.5:c.367A>G MANE Select | ENSP00000231512.3:p.Ser123Gly |
| NM_020199.2:c.367A>G | NP_064584.1:p.Ser123Gly |
| ENST00000231512.4:c.367A>G | ENSP00000231512.3:p.Ser123Gly |
| ENST00000507191.1:n.377A>G | |
| ENST00000509913.1:n.472A>G |