Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10651686C>A , CM000682.2:g.10651686C>A | GRCh38 |
| NC_000020.10:g.10632334C>A , CM000682.1:g.10632334C>A | GRCh37 |
| NC_000020.9:g.10580334C>A | NCBI36 |
| NG_007496.1:g.27361G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.3:c.1015G>T MANE Select | NP_000205.1:p.Ala339Ser |
| ENST00000254958.10:c.1015G>T MANE Select | ENSP00000254958.4:p.Ala339Ser |
| NM_000214.2:c.1015G>T | NP_000205.1:p.Ala339Ser |
| ENST00000254958.9:c.1015G>T | ENSP00000254958.4:p.Ala339Ser |
| ENST00000423891.6:n.881G>T | |
| ENST00000617965.1:n.384G>T | |
| ENST00000617965.2:n.384G>T |