Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.99982874G>C , CM000675.2:g.99982874G>C | GRCh38 |
| NC_000013.10:g.100635128G>C , CM000675.1:g.100635128G>C | GRCh37 |
| NC_000013.9:g.99433129G>C | NCBI36 |
| NG_007085.2:g.5810G>C | |
| NG_007085.3:g.6119G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376335.8:c.810G>C MANE Select | ENSP00000365514.3:p.Lys270Asn | |
| ENST00000376335.7:c.810G>C | ENSP00000365514.3:p.Lys270Asn | |
| ENST00000620342.1:c.807G>C | ENSP00000481510.1:p.Lys269Asn | |
| NM_007129.3:c.810G>C | NP_009060.2:p.Lys270Asn | |
| XM_011521110.1:c.810G>C | XP_011519412.1:p.Lys270Asn | |
| NM_007129.4:c.810G>C | NP_009060.2:p.Lys270Asn | |
| NM_007129.5:c.810G>C MANE Select | NP_009060.2:p.Lys270Asn |