Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.20006090C>G , CM000664.2:g.20006090C>G | GRCh38 |
| NC_000002.11:g.20205851C>G , CM000664.1:g.20205851C>G | GRCh37 |
| NC_000002.10:g.20069332C>G | NCBI36 |
| NG_008087.1:g.11605G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407540.8:c.444G>C MANE Select | ENSP00000383894.3:p.Gln148His | |
| ENST00000407540.7:c.444G>C | ENSP00000383894.3:p.Gln148His | |
| ENST00000421259.2:c.444G>C | ENSP00000398753.2:p.Gln148His | |
| NM_002381.4:c.444G>C | NP_002372.1:p.Gln148His | |
| NM_002381.5:c.444G>C MANE Select | NP_002372.1:p.Gln148His |