Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130681307T>G , CM000671.2:g.130681307T>G | GRCh38 |
| NC_000009.11:g.133556694T>G , CM000671.1:g.133556694T>G | GRCh37 |
| NC_000009.10:g.132546515T>G | NCBI36 |
| NG_053081.1:g.21714T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021619.3:c.742T>G MANE Select | NP_067632.2:p.Cys248Gly |
| ENST00000253008.3:c.742T>G MANE Select | ENSP00000253008.2:p.Cys248Gly |
| NM_021619.2:c.742T>G | NP_067632.2:p.Cys248Gly |
| ENST00000253008.2:c.742T>G | ENSP00000253008.2:p.Cys248Gly |
| ENST00000676323.1:c.742T>G | ENSP00000502471.1:p.Cys248Gly |