Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29233572A>G , CM000664.2:g.29233572A>G | GRCh38 |
| NC_000002.11:g.29456438A>G , CM000664.1:g.29456438A>G | GRCh37 |
| NC_000002.10:g.29309942A>G | NCBI36 |
| NG_009445.1:g.692995T>C , LRG_488:g.692995T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004304.5:c.2480T>C MANE Select | NP_004295.2:p.Val827Ala |
| ENST00000389048.8:c.2480T>C MANE Select | ENSP00000373700.3:p.Val827Ala |
| NM_004304.4:c.2480T>C | NP_004295.2:p.Val827Ala |
| ENST00000389048.7:c.2480T>C | ENSP00000373700.3:p.Val827Ala |
| ENST00000618119.4:c.1349T>C | ENSP00000482733.1:p.Val450Ala |
| XR_001738688.2:n.3410T>C |