Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6018380G>T , CM000674.2:g.6018380G>T | GRCh38 |
| NC_000012.11:g.6127546G>T , CM000674.1:g.6127546G>T | GRCh37 |
| NC_000012.10:g.5997807G>T | NCBI36 |
| NG_009072.1:g.111291C>A | |
| NG_009072.2:g.111291C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.5038C>A MANE Select | ENSP00000261405.5:p.Leu1680Ile | |
| ENST00000261405.9:c.5038C>A | ENSP00000261405.5:p.Leu1680Ile | |
| ENST00000538635.5:n.421-24446C>A | ||
| NM_000552.3:c.5038C>A | NP_000543.2:p.Leu1680Ile | |
| NM_000552.4:c.5038C>A | NP_000543.2:p.Leu1680Ile | |
| NM_000552.5:c.5038C>A MANE Select | NP_000543.3:p.Leu1680Ile |