Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.27101243C>A , CM000663.2:g.27101243C>A | GRCh38 |
| NC_000001.10:g.27427734C>A , CM000663.1:g.27427734C>A | GRCh37 |
| NC_000001.9:g.27300321C>A | NCBI36 |
| NG_030006.1:g.58718G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263980.8:c.2070G>T MANE Select | ENSP00000263980.3:p.Lys690Asn | |
| ENST00000263980.7:c.2070G>T | ENSP00000263980.3:p.Lys690Asn | |
| ENST00000374089.5:n.1295G>T | ||
| ENST00000447808.1:n.547G>T | ||
| NM_003047.4:c.2070G>T | NP_003038.2:p.Lys690Asn | |
| NR_046474.1:n.2405G>T | ||
| XM_011542021.1:c.1740G>T | XP_011540323.1:p.Lys580Asn | |
| XM_011542021.3:c.1740G>T | XP_011540323.1:p.Lys580Asn | |
| NM_003047.5:c.2070G>T MANE Select | NP_003038.2:p.Lys690Asn | |
| NR_046474.2:n.2400G>T |