Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98542020A= , CM000671.2:g.98542020A= | GRCh38 |
| NC_000009.11:g.101304302A= , CM000671.1:g.101304302A= | GRCh37 |
| NC_000009.10:g.100344123A= | NCBI36 |
| NG_016426.1:g.172178T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.483T= MANE Select | ENSP00000259455.2:p.Pro161= | |
| ENST00000637410.1:n.261T= | ||
| ENST00000637717.1:c.99T= | ENSP00000490789.1:p.Pro33= | |
| ENST00000638001.1:n.93T= | ||
| ENST00000259455.3:c.483T= | ENSP00000259455.2:p.Pro161= | |
| ENST00000477471.1:n.270T= | ||
| ENST00000634227.1:n.257T= | ||
| NM_005458.7:c.483T= | NP_005449.5:p.Pro161= | |
| XM_017015331.2:c.189T= | XP_016870820.1:p.Pro63= | |
| NM_005458.8:c.483T= MANE Select | NP_005449.5:p.Pro161= |