Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30722256C>G , CM000678.2:g.30722256C>G | GRCh38 |
| NC_000016.9:g.30733577C>G , CM000678.1:g.30733577C>G | GRCh37 |
| NC_000016.8:g.30641078C>G | NCBI36 |
| NG_032135.1:g.28116C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006662.3:c.3676C>G MANE Select | NP_006653.2:p.Leu1226Val |
| ENST00000262518.9:c.3676C>G MANE Select | ENSP00000262518.4:p.Leu1226Val |
| NM_006662.2:c.3676C>G | NP_006653.2:p.Leu1226Val |
| ENST00000262518.8:c.3676C>G | ENSP00000262518.4:p.Leu1226Val |
| ENST00000380361.7:c.3331C>G | ENSP00000369719.3:p.Leu1111Val |
| ENST00000395059.6:c.3085C>G | ENSP00000378499.3:p.Leu1029Val |
| ENST00000411466.7:c.3676C>G | ENSP00000405186.3:p.Leu1226Val |
| ENST00000483083.3:c.2775C>G | |
| ENST00000706321.1:c.3676C>G | ENSP00000516346.1:p.Leu1226Val |