Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.144074809T>A , CM000669.2:g.144074809T>A | GRCh38 |
| NC_000007.13:g.143771902T>A , CM000669.1:g.143771902T>A | GRCh37 |
| NC_000007.12:g.143402835T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001386096.1:c.590T>A MANE Select | NP_001373025.1:p.Met197Lys |
| ENST00000641663.1:c.590T>A MANE Select | ENSP00000493343.1:p.Met197Lys |
| NM_001004488.1:c.590T>A | NP_001004488.1:p.Met197Lys |
| NM_001004488.2:c.590T>A | NP_001004488.1:p.Met197Lys |
| ENST00000408898.2:c.590T>A | ENSP00000386167.2:p.Met197Lys |
| ENST00000641441.1:c.590T>A | ENSP00000493159.1:p.Met197Lys |
| XR_928076.1:n.65+9954A>T | |
| XR_928076.2:n.568+9954A>T |