Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.69245287C>T , CM000664.2:g.69245287C>T | GRCh38 |
| NC_000002.11:g.69472419C>T , CM000664.1:g.69472419C>T | GRCh37 |
| NC_000002.10:g.69325923C>T | NCBI36 |
| NG_012649.1:g.237144C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303714.9:c.1497C>T MANE Select | ENSP00000301945.4:p.Asn499= | |
| ENST00000303714.8:c.1497C>T | ENSP00000301945.4:p.Asn499= | |
| NM_032208.2:c.1497C>T | NP_115584.1:p.Asn499= | |
| XR_939725.1:n.1644C>T | ||
| NM_032208.3:c.1497C>T MANE Select | NP_115584.1:p.Asn499= |