Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1423621A>C , CM000679.2:g.1423621A>C | GRCh38 |
| NC_000017.10:g.1326915A>C , CM000679.1:g.1326915A>C | GRCh37 |
| NC_000017.9:g.1273665A>C | NCBI36 |
| NG_029008.1:g.37630T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300574.3:c.807T>G MANE Select | ENSP00000300574.2:p.Ile269Met | |
| ENST00000300574.2:c.807T>G | ENSP00000300574.2:p.Ile269Met | |
| ENST00000398970.5:c.*22T>G | ENSP00000381942.5:n.*22T>G | |
| ENST00000572145.1:n.606T>G | ||
| ENST00000574295.1:c.400-436T>G | ENSP00000459505.1:n.400-436T>G | |
| NM_005206.4:c.*22T>G | NP_005197.3:n.*22T>G | |
| NM_016823.3:c.807T>G | NP_058431.2:p.Ile269Met | |
| NM_016823.4:c.807T>G MANE Select | NP_058431.2:p.Ile269Met | |
| NM_005206.5:c.*22T>G | NP_005197.3:n.*22T>G |