Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94062611G>T , CM000663.2:g.94062611G>T | GRCh38 |
| NC_000001.10:g.94528167G>T , CM000663.1:g.94528167G>T | GRCh37 |
| NC_000001.9:g.94300755G>T | NCBI36 |
| NG_009073.1:g.63539C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.1903C>A MANE Select | NP_000341.2:p.Gln635Lys |
| ENST00000370225.4:c.1903C>A MANE Select | ENSP00000359245.3:p.Gln635Lys |
| NM_000350.2:c.1903C>A | NP_000341.2:p.Gln635Lys |
| ENST00000370225.3:c.1903C>A | ENSP00000359245.3:p.Gln635Lys |
| ENST00000536513.5:c.-65+563C>A | ENSP00000439707.2:n.-65+563C>A |
| ENST00000649773.1:c.1903C>A | ENSP00000496882.1:p.Gln635Lys |