Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.77794502A>G , CM000671.2:g.77794502A>G | GRCh38 |
| NC_000009.11:g.80409418A>G , CM000671.1:g.80409418A>G | GRCh37 |
| NC_000009.10:g.79599238A>G | NCBI36 |
| NG_027904.2:g.241802T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286548.9:c.696T>C MANE Select | ENSP00000286548.4:p.Leu232= | |
| ENST00000286548.8:c.696T>C | ENSP00000286548.4:p.Leu232= | |
| NM_002072.4:c.696T>C | NP_002063.2:p.Leu232= | |
| XM_017014628.2:c.522T>C | XP_016870117.1:p.Leu174= | |
| NM_002072.5:c.696T>C MANE Select | NP_002063.2:p.Leu232= |