Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18787549T>G , CM000681.2:g.18787549T>G | GRCh38 |
| NC_000019.9:g.18898358T>G , CM000681.1:g.18898358T>G | GRCh37 |
| NC_000019.8:g.18759358T>G | NCBI36 |
| NG_007070.1:g.8757A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1077A>C MANE Select | ENSP00000222271.2:p.Gln359His | |
| ENST00000222271.6:c.1077A>C | ENSP00000222271.2:p.Gln359His | |
| ENST00000425807.1:c.918A>C | ENSP00000403792.1:p.Gln306His | |
| ENST00000542601.6:c.978A>C | ENSP00000439156.2:p.Gln326His | |
| NM_000095.2:c.1077A>C | NP_000086.2:p.Gln359His | |
| NM_000095.3:c.1077A>C MANE Select | NP_000086.2:p.Gln359His |