Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48045790T>C , CM000675.2:g.48045790T>C | GRCh38 |
| NC_000013.10:g.48619926T>C , CM000675.1:g.48619926T>C | GRCh37 |
| NC_000013.9:g.47517927T>C | NCBI36 |
| NG_047021.1:g.13224T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258662.3:c.486T>C MANE Select | ENSP00000258662.1:p.Asn162= | |
| ENST00000258662.2:c.486T>C | ENSP00000258662.1:p.Asn162= | |
| NM_018283.2:c.486T>C | NP_060753.1:p.Asn162= | |
| NM_018283.3:c.486T>C | NP_060753.1:p.Asn162= | |
| NR_136687.1:n.666T>C | ||
| NR_136688.1:n.666T>C | ||
| NM_018283.4:c.486T>C MANE Select | NP_060753.1:p.Asn162= | |
| NR_136687.2:n.507T>C | ||
| NR_136688.2:n.507T>C |