Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28845055T>G , CM000678.2:g.28845055T>G | GRCh38 |
| NC_000016.9:g.28856376T>G , CM000678.1:g.28856376T>G | GRCh37 |
| NC_000016.8:g.28763877T>G | NCBI36 |
| NG_008964.1:g.6354A>C | |
| NG_029706.2:g.3456T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313511.8:c.415A>C MANE Select | ENSP00000322439.3:p.Asn139His | |
| ENST00000313511.7:c.415A>C | ENSP00000322439.3:p.Asn139His | |
| ENST00000565012.1:c.248A>C | ENSP00000455007.1:p.Lys83Thr | |
| NM_003321.4:c.415A>C | NP_003312.3:p.Asn139His | |
| XM_011545928.1:c.415A>C | XP_011544230.1:p.Asn139His | |
| NM_001365360.1:c.415A>C | NP_001352289.1:p.Asn139His | |
| NM_003321.5:c.415A>C MANE Select | NP_003312.3:p.Asn139His | |
| NM_001365360.2:c.415A>C | NP_001352289.1:p.Asn139His |