Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29328453C>T , CM000664.2:g.29328453C>T | GRCh38 |
| NC_000002.11:g.29551319C>T , CM000664.1:g.29551319C>T | GRCh37 |
| NC_000002.10:g.29404823C>T | NCBI36 |
| NG_009445.1:g.598114G>A , LRG_488:g.598114G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004304.5:c.1311G>A MANE Select | NP_004295.2:p.Leu437= |
| ENST00000389048.8:c.1311G>A MANE Select | ENSP00000373700.3:p.Leu437= |
| NM_004304.4:c.1311G>A | NP_004295.2:p.Leu437= |
| ENST00000389048.7:c.1311G>A | ENSP00000373700.3:p.Leu437= |
| ENST00000618119.4:c.180G>A | ENSP00000482733.1:p.Leu60= |
| XR_001738688.2:n.2241G>A | |
| XR_939920.1:n.761C>T | |
| XR_939920.2:n.651C>T | |
| XR_939921.1:n.680+5925C>T | |
| XR_939921.2:n.576+5925C>T |