Linked Data
gnomAD v4:
12-49951109-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49951109G>C , CM000674.2:g.49951109G>C | GRCh38 |
| NC_000012.11:g.50344892G>C , CM000674.1:g.50344892G>C | GRCh37 |
| NC_000012.10:g.48631159G>C | NCBI36 |
| NG_008913.1:g.5369G>C , LRG_717:g.5369G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199280.4:c.279G>C MANE Select | ENSP00000199280.3:p.Gln93His | |
| ENST00000199280.3:c.279G>C | ENSP00000199280.3:p.Gln93His | |
| ENST00000550862.1:c.279G>C | ENSP00000450022.1:p.Gln93His | |
| ENST00000551526.5:c.279G>C | ENSP00000447148.1:p.Gln93His | |
| NM_000486.5:c.279G>C , LRG_717t1:c.279G>C | NP_000477.1:p.Gln93His | |
| NM_000486.6:c.279G>C MANE Select | NP_000477.1:p.Gln93His |