Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128305644A>T , CM000667.2:g.128305644A>T | GRCh38 |
| NC_000005.9:g.127641336A>T , CM000667.1:g.127641336A>T | GRCh37 |
| NC_000005.8:g.127669235A>T | NCBI36 |
| NG_008750.1:g.237400T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001999.4:c.5549-8T>A MANE Select | NP_001990.2:n.5549-8T>A |
| ENST00000262464.9:c.5549-8T>A MANE Select | ENSP00000262464.4:n.5549-8T>A |
| NM_001999.3:c.5549-8T>A | NP_001990.2:n.5549-8T>A |
| ENST00000262464.8:c.5549-8T>A | ENSP00000262464.4:n.5549-8T>A |
| ENST00000508053.5:c.5549-8T>A | ENSP00000424571.1:n.5549-8T>A |
| ENST00000619499.4:c.5546-8T>A | ENSP00000482132.1:n.5546-8T>A |
| ENST00000703783.1:n.2333-8T>A | |
| ENST00000703785.1:n.2252-8T>A | |
| XM_017009228.2:c.5396-8T>A | XP_016864717.1:n.5396-8T>A |