Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10647105T>A , CM000682.2:g.10647105T>A | GRCh38 |
| NC_000020.10:g.10627753T>A , CM000682.1:g.10627753T>A | GRCh37 |
| NC_000020.9:g.10575753T>A | NCBI36 |
| NG_007496.1:g.31942A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.3:c.1721-2A>T MANE Select | NP_000205.1:n.1721-2A>T |
| ENST00000254958.10:c.1721-2A>T MANE Select | ENSP00000254958.4:n.1721-2A>T |
| NM_000214.2:c.1721-2A>T | NP_000205.1:n.1721-2A>T |
| ENST00000254958.9:c.1721-2A>T | ENSP00000254958.4:n.1721-2A>T |
| ENST00000423891.6:n.1587-2A>T | |
| ENST00000612857.1:n.208A>T | |
| ENST00000613518.1:c.70-2A>T | |
| ENST00000617965.2:n.2310-2A>T | |
| ENST00000622545.1:c.452-2A>T |