Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.88143743T>A , CM000673.2:g.88143743T>A | GRCh38 |
| NC_000011.9:g.87876911T>A , CM000673.1:g.87876911T>A | GRCh37 |
| NC_000011.8:g.87516559T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022337.3:c.483+5932A>T MANE Select | NP_071732.1:n.483+5932A>T |
| ENST00000243662.11:c.483+5932A>T MANE Select | ENSP00000243662.5:n.483+5932A>T |
| NM_022337.2:c.483+5932A>T | NP_071732.1:n.483+5932A>T |
| ENST00000243662.10:c.483+5932A>T | ENSP00000243662.5:n.483+5932A>T |
| ENST00000526372.1:c.478+5932A>T | |
| ENST00000531138.1:c.252-29603A>T | |
| XM_017017455.2:c.483+5932A>T | XP_016872944.1:n.483+5932A>T |
| XM_017017456.2:c.483+5932A>T | XP_016872945.1:n.483+5932A>T |