Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38367166A>T , CM000685.2:g.38367166A>T | GRCh38 |
| NC_000023.10:g.38226419A>T , CM000685.1:g.38226419A>T | GRCh37 |
| NC_000023.9:g.38111363A>T | NCBI36 |
| NG_008471.1:g.19684A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000531.6:c.78-125A>T MANE Select | NP_000522.3:n.78-125A>T |
| ENST00000039007.5:c.78-125A>T MANE Select | ENSP00000039007.4:n.78-125A>T |
| NM_000531.5:c.78-125A>T | NP_000522.3:n.78-125A>T |
| ENST00000039007.4:c.78-125A>T | ENSP00000039007.4:n.78-125A>T |
| ENST00000465127.1:c.172-298955A>T | ENSP00000417050.1:n.172-298955A>T |
| ENST00000488812.1:n.170-125A>T | |
| ENST00000643344.1:c.78-125A>T | ENSP00000496606.1:n.78-125A>T |
| XM_017029556.1:c.78-125A>T | XP_016885045.1:n.78-125A>T |