Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119916359C>G , CM000663.2:g.119916359C>G | GRCh38 |
| NC_000001.10:g.120458982C>G , CM000663.1:g.120458982C>G | GRCh37 |
| NC_000001.9:g.120260505C>G | NCBI36 |
| NG_008163.1:g.158295G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024408.4:c.6363G>C MANE Select | NP_077719.2:p.Lys2121Asn |
| ENST00000256646.7:c.6363G>C MANE Select | ENSP00000256646.2:p.Lys2121Asn |
| NM_024408.3:c.6363G>C | NP_077719.2:p.Lys2121Asn |
| ENST00000256646.6:c.6363G>C | ENSP00000256646.2:p.Lys2121Asn |
| XM_005270901.2:c.6246G>C | XP_005270958.1:p.Lys2082Asn |
| XM_011541519.1:c.6351G>C | XP_011539821.1:p.Lys2117Asn |
| XM_011541520.1:c.6246G>C | XP_011539822.1:p.Lys2082Asn |