Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98541711A>T , CM000671.2:g.98541711A>T | GRCh38 |
| NC_000009.11:g.101303993A>T , CM000671.1:g.101303993A>T | GRCh37 |
| NC_000009.10:g.100343814A>T | NCBI36 |
| NG_016426.1:g.172487T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.630+162T>A MANE Select | ENSP00000259455.2:n.630+162T>A | |
| ENST00000637410.1:n.408+162T>A | ||
| ENST00000259455.3:c.630+162T>A | ENSP00000259455.2:n.630+162T>A | |
| ENST00000477471.1:n.417+162T>A | ||
| ENST00000634227.1:n.404+162T>A | ||
| NM_005458.7:c.630+162T>A | NP_005449.5:n.630+162T>A | |
| XM_017015331.2:c.336+162T>A | XP_016870820.1:n.336+162T>A | |
| NM_005458.8:c.630+162T>A MANE Select | NP_005449.5:n.630+162T>A |