Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571483G= , CM000663.2:g.154571483G= | GRCh38 |
| NC_000001.10:g.154543959G= , CM000663.1:g.154543959G= | GRCh37 |
| NC_000001.9:g.152810583G= | NCBI36 |
| NG_008027.1:g.8703G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.660G= MANE Select | ENSP00000357461.3:p.Thr220= | |
| ENST00000636034.1:c.660G= | ENSP00000489703.1:p.Thr220= | |
| ENST00000637900.1:c.666G= | ENSP00000490474.1:p.Thr222= | |
| ENST00000368476.3:c.660G= | ENSP00000357461.3:p.Thr220= | |
| NM_000748.2:c.660G= | NP_000739.1:p.Thr220= | |
| XM_017000180.2:c.150G= | XP_016855669.1:p.Thr50= | |
| XR_001736952.2:n.912G= | ||
| NM_000748.3:c.660G= MANE Select | NP_000739.1:p.Thr220= |