Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150977876G>T , CM000669.2:g.150977876G>T | GRCh38 |
| NC_000007.13:g.150674964G>T , CM000669.1:g.150674964G>T | GRCh37 |
| NC_000007.12:g.150305897G>T | NCBI36 |
| NG_008916.1:g.5051C>A , LRG_288:g.5051C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000238.4:c.38C>A MANE Select | NP_000229.1:p.Thr13Asn |
| ENST00000262186.10:c.38C>A MANE Select | ENSP00000262186.5:p.Thr13Asn |
| NM_000238.3:c.38C>A , LRG_288t1:c.38C>A | NP_000229.1:p.Thr13Asn |
| NM_172056.2:c.38C>A , LRG_288t2:c.38C>A | NP_742053.1:p.Thr13Asn |
| ENST00000262186.9:c.38C>A | ENSP00000262186.5:p.Thr13Asn |
| ENST00000430723.4:c.-140C>A | ENSP00000387657.4:n.-140C>A |
| ENST00000532957.5:n.261C>A | |
| XM_011516186.1:c.38C>A | XP_011514488.1:p.Thr13Asn |
| XM_011516186.3:c.38C>A | XP_011514488.1:p.Thr13Asn |