Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34371897G>C , CM000671.2:g.34371897G>C | GRCh38 |
| NC_000009.11:g.34371895G>C , CM000671.1:g.34371895G>C | GRCh37 |
| NC_000009.10:g.34361895G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020702.5:c.1047C>G MANE Select | NP_065753.2:p.His349Gln |
| ENST00000297625.8:c.1047C>G MANE Select | ENSP00000297625.8:p.His349Gln |
| NM_020702.4:c.1047C>G | NP_065753.2:p.His349Gln |
| ENST00000297625.7:c.1047C>G | ENSP00000297625.8:p.His349Gln |
| XM_011517966.1:c.1047C>G | XP_011516268.1:p.His349Gln |
| XM_011517966.3:c.1047C>G | XP_011516268.1:p.His349Gln |
| XM_017014930.2:c.1047C>G | XP_016870419.1:p.His349Gln |