Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14716806G= , CM000667.2:g.14716806G= | GRCh38 |
| NC_000005.9:g.14716915G= , CM000667.1:g.14716915G= | GRCh37 |
| NC_000005.8:g.14769915G= | NCBI36 |
| NG_008273.1:g.159973C= | |
| NG_008273.2:g.159980C= | |
| NG_051625.1:g.61013G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.1041C= MANE Select | ENSP00000284268.6:p.Asn347= | |
| ENST00000284268.6:c.1041C= | ENSP00000284268.6:p.Asn347= | |
| ENST00000502585.1:n.283C= | ||
| NM_054027.4:c.1041C= | NP_473368.1:p.Asn347= | |
| NM_054027.5:c.1041C= | NP_473368.1:p.Asn347= | |
| XM_017009644.2:c.957C= | XP_016865133.1:p.Asn319= | |
| NM_054027.6:c.1041C= MANE Select | NP_473368.1:p.Asn347= |