Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29328478G>A , CM000664.2:g.29328478G>A | GRCh38 |
| NC_000002.11:g.29551344G>A , CM000664.1:g.29551344G>A | GRCh37 |
| NC_000002.10:g.29404848G>A | NCBI36 |
| NG_009445.1:g.598089C>T , LRG_488:g.598089C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004304.5:c.1286C>T MANE Select | NP_004295.2:p.Thr429Ile |
| ENST00000389048.8:c.1286C>T MANE Select | ENSP00000373700.3:p.Thr429Ile |
| NM_004304.4:c.1286C>T | NP_004295.2:p.Thr429Ile |
| ENST00000389048.7:c.1286C>T | ENSP00000373700.3:p.Thr429Ile |
| ENST00000618119.4:c.155C>T | ENSP00000482733.1:p.Thr52Ile |
| XR_001738688.2:n.2216C>T | |
| XR_939920.1:n.786G>A | |
| XR_939920.2:n.676G>A | |
| XR_939921.1:n.680+5950G>A | |
| XR_939921.2:n.576+5950G>A |