Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.81751762T>C , CM000668.2:g.81751762T>C | GRCh38 |
| NC_000006.11:g.82461479T>C , CM000668.1:g.82461479T>C | GRCh37 |
| NC_000006.10:g.82518198T>C | NCBI36 |
| NG_056210.1:g.5950A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017633.3:c.380A>G MANE Select | NP_060103.2:p.His127Arg |
| ENST00000320172.11:c.380A>G MANE Select | ENSP00000318298.6:p.His127Arg |
| NM_017633.2:c.380A>G | NP_060103.2:p.His127Arg |
| ENST00000320172.10:c.380A>G | ENSP00000318298.6:p.His127Arg |
| ENST00000369754.7:c.437A>G | ENSP00000358769.3:p.His146Arg |
| ENST00000369756.3:c.623A>G | ENSP00000358771.3:p.His208Arg |
| ENST00000412306.1:c.51A>G |