Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29383795T>G , CM000664.2:g.29383795T>G | GRCh38 |
| NC_000002.11:g.29606661T>G , CM000664.1:g.29606661T>G | GRCh37 |
| NC_000002.10:g.29460165T>G | NCBI36 |
| NG_009445.1:g.542772A>C , LRG_488:g.542772A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004304.5:c.1219A>C MANE Select | NP_004295.2:p.Ile407Leu |
| ENST00000389048.8:c.1219A>C MANE Select | ENSP00000373700.3:p.Ile407Leu |
| NM_004304.4:c.1219A>C | NP_004295.2:p.Ile407Leu |
| ENST00000389048.7:c.1219A>C | ENSP00000373700.3:p.Ile407Leu |
| ENST00000618119.4:c.88A>C | ENSP00000482733.1:p.Ile30Leu |
| XR_001738688.2:n.2149A>C |