Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.77794478C>G , CM000671.2:g.77794478C>G | GRCh38 |
| NC_000009.11:g.80409394C>G , CM000671.1:g.80409394C>G | GRCh37 |
| NC_000009.10:g.79599214C>G | NCBI36 |
| NG_027904.2:g.241826G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286548.9:c.720G>C MANE Select | ENSP00000286548.4:p.Val240= | |
| ENST00000286548.8:c.720G>C | ENSP00000286548.4:p.Val240= | |
| NM_002072.4:c.720G>C | NP_002063.2:p.Val240= | |
| XM_017014628.2:c.546G>C | XP_016870117.1:p.Val182= | |
| NM_002072.5:c.720G>C MANE Select | NP_002063.2:p.Val240= |