Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29920153A>G , CM000664.2:g.29920153A>G | GRCh38 |
| NC_000002.11:g.30143019A>G , CM000664.1:g.30143019A>G | GRCh37 |
| NC_000002.10:g.29996523A>G | NCBI36 |
| NG_009445.1:g.6414T>C , LRG_488:g.6414T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004304.5:c.507T>C MANE Select | NP_004295.2:p.Asn169= |
| ENST00000389048.8:c.507T>C MANE Select | ENSP00000373700.3:p.Asn169= |
| NM_004304.4:c.507T>C | NP_004295.2:p.Asn169= |
| ENST00000389048.7:c.507T>C | ENSP00000373700.3:p.Asn169= |
| XR_001738688.2:n.1437T>C |