Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18400519C>T , CM000670.2:g.18400519C>T | GRCh38 |
| NC_000008.10:g.18258029C>T , CM000670.1:g.18258029C>T | GRCh37 |
| NC_000008.9:g.18302309C>T | NCBI36 |
| NG_012246.1:g.14275C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000015.3:c.516C>T MANE Select | NP_000006.2:p.Asn172= |
| ENST00000286479.4:c.516C>T MANE Select | ENSP00000286479.3:p.Asn172= |
| NM_000015.2:c.516C>T | NP_000006.2:p.Asn172= |
| ENST00000286479.3:c.516C>T | ENSP00000286479.3:p.Asn172= |
| ENST00000520116.1:c.126C>T | ENSP00000428416.1:p.Asn42= |
| XM_011544358.1:c.516C>T | XP_011542660.1:p.Asn172= |
| XM_017012938.1:c.516C>T | XP_016868427.1:p.Asn172= |