Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94536311T>A , CM000663.2:g.94536311T>A | GRCh38 |
| NC_000001.10:g.95001867T>A , CM000663.1:g.95001867T>A | GRCh37 |
| NC_000001.9:g.94774455T>A | NCBI36 |
| NG_029366.1:g.10547A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001993.5:c.213-147A>T MANE Select | NP_001984.1:n.213-147A>T |
| ENST00000334047.12:c.213-147A>T MANE Select | ENSP00000334145.7:n.213-147A>T |
| NM_001178096.1:c.213-147A>T | NP_001171567.1:n.213-147A>T |
| NM_001178096.2:c.213-147A>T | NP_001171567.1:n.213-147A>T |
| NM_001993.4:c.213-147A>T | NP_001984.1:n.213-147A>T |
| ENST00000334047.11:c.213-147A>T | ENSP00000334145.7:n.213-147A>T |
| ENST00000370207.4:c.213-147A>T | ENSP00000359226.4:n.213-147A>T |
| ENST00000480356.1:n.831-147A>T |