Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2717965C= , CM000671.2:g.2717965C= | GRCh38 |
| NC_000009.11:g.2717965C= , CM000671.1:g.2717965C= | GRCh37 |
| NC_000009.10:g.2707965C= | NCBI36 |
| NG_012181.1:g.5440C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_133497.4:c.226C= MANE Select | NP_598004.1:p.Gln76= |
| ENST00000382082.4:c.226C= MANE Select | ENSP00000371514.3:p.Gln76= |
| NM_133497.3:c.226C= | NP_598004.1:p.Gln76= |
| ENST00000382082.3:c.226C= | ENSP00000371514.3:p.Gln76= |
| XR_929202.1:n.727C= | |
| XR_929203.1:n.727C= |