Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131950012T>A , CM000668.2:g.131950012T>A | GRCh38 |
| NC_000006.11:g.132271152T>A , CM000668.1:g.132271152T>A | GRCh37 |
| NC_000006.10:g.132312845T>A | NCBI36 |
| NG_016131.1:g.6367A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367976.4:c.690A>T MANE Select | ENSP00000356954.3:p.Leu230= | |
| ENST00000367976.3:c.690A>T | ENSP00000356954.3:p.Leu230= | |
| NM_001901.2:c.690A>T | NP_001892.1:p.Leu230= | |
| NM_001901.3:c.690A>T | NP_001892.1:p.Leu230= | |
| NM_001901.4:c.690A>T MANE Select | NP_001892.2:p.Leu230= |