Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.23686321G>A , CM000685.2:g.23686321G>A | GRCh38 |
| NC_000023.10:g.23704438G>A , CM000685.1:g.23704438G>A | GRCh37 |
| NC_000023.9:g.23614359G>A | NCBI36 |
| NG_012563.1:g.23794G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006406.2:c.802G>A MANE Select | NP_006397.1:p.Asp268Asn |
| ENST00000379341.9:c.802G>A MANE Select | ENSP00000368646.4:p.Asp268Asn |
| NM_006406.1:c.802G>A | NP_006397.1:p.Asp268Asn |
| ENST00000379341.8:c.802G>A | ENSP00000368646.4:p.Asp268Asn |
| ENST00000439422.1:c.480G>A | |
| XM_005274438.1:c.760G>A | XP_005274495.1:p.Asp254Asn |