Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.26759823T>G , CM000675.2:g.26759823T>G | GRCh38 |
| NC_000013.10:g.27333960T>G , CM000675.1:g.27333960T>G | GRCh37 |
| NC_000013.9:g.26231960T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005288.4:c.5A>C MANE Select | NP_005279.1:p.Asn2Thr |
| ENST00000405846.5:c.5A>C MANE Select | ENSP00000384932.3:p.Asn2Thr |
| NM_005288.3:c.5A>C | NP_005279.1:p.Asn2Thr |
| ENST00000381436.2:c.5A>C | ENSP00000370844.2:p.Asn2Thr |
| ENST00000405846.4:c.5A>C | ENSP00000384932.3:p.Asn2Thr |
| XM_005266360.2:c.-88-385A>C | XP_005266417.1:n.-88-385A>C |
| XM_005266360.3:c.-88-385A>C | XP_005266417.1:n.-88-385A>C |