Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869218A>C , CM000664.2:g.240869218A>C | GRCh38 |
| NC_000002.11:g.241808635A>C , CM000664.1:g.241808635A>C | GRCh37 |
| NC_000002.10:g.241457308A>C | NCBI36 |
| NG_008005.1:g.5474A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000030.3:c.214A>C MANE Select | NP_000021.1:p.Asn72His |
| ENST00000307503.4:c.214A>C MANE Select | ENSP00000302620.3:p.Asn72His |
| NM_000030.2:c.214A>C | NP_000021.1:p.Asn72His |
| ENST00000307503.3:c.214A>C | ENSP00000302620.3:p.Asn72His |
| ENST00000472436.1:n.234A>C | |
| XR_924060.1:n.405+1015T>G |