Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30713580T>C , CM000678.2:g.30713580T>C | GRCh38 |
| NC_000016.9:g.30724901T>C , CM000678.1:g.30724901T>C | GRCh37 |
| NC_000016.8:g.30632402T>C | NCBI36 |
| NG_032135.1:g.19440T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006662.3:c.2362T>C MANE Select | NP_006653.2:p.Leu788= |
| ENST00000262518.9:c.2362T>C MANE Select | ENSP00000262518.4:p.Leu788= |
| NM_006662.2:c.2362T>C | NP_006653.2:p.Leu788= |
| ENST00000262518.8:c.2362T>C | ENSP00000262518.4:p.Leu788= |
| ENST00000380361.7:c.2305T>C | ENSP00000369719.3:p.Leu769= |
| ENST00000395059.6:c.1771T>C | ENSP00000378499.3:p.Leu591= |
| ENST00000411466.7:c.2362T>C | ENSP00000405186.3:p.Leu788= |
| ENST00000483083.3:c.1461T>C | |
| ENST00000706321.1:c.2362T>C | ENSP00000516346.1:p.Leu788= |