Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116832824G>C , CM000673.2:g.116832824G>C | GRCh38 |
| NC_000011.9:g.116703540G>C , CM000673.1:g.116703540G>C | GRCh37 |
| NC_000011.8:g.116208750G>C | NCBI36 |
| NG_008949.1:g.7917G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000227667.8:c.240G>C MANE Select | ENSP00000227667.2:p.Lys80Asn | |
| ENST00000227667.7:c.240G>C | ENSP00000227667.2:p.Lys80Asn | |
| ENST00000375345.3:c.294G>C | ENSP00000364494.1:p.Lys98Asn | |
| ENST00000630701.1:c.294G>C | ENSP00000486182.1:p.Lys98Asn | |
| NM_000040.1:c.240G>C | NP_000031.1:p.Lys80Asn | |
| NM_000040.2:c.240G>C | NP_000031.1:p.Lys80Asn | |
| NM_000040.3:c.240G>C MANE Select | NP_000031.1:p.Lys80Asn |