Linked Data
gnomAD v4:
11-116822660-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116822660T>G , CM000673.2:g.116822660T>G | GRCh38 |
| NC_000011.9:g.116693376T>G , CM000673.1:g.116693376T>G | GRCh37 |
| NC_000011.8:g.116198586T>G | NCBI36 |
| NG_012044.1:g.5636A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357780.5:c.175A>C MANE Select | ENSP00000350425.3:p.Asn59His | |
| ENST00000357780.4:c.175A>C | ENSP00000350425.3:p.Asn59His | |
| NM_000482.3:c.175A>C | NP_000473.2:p.Asn59His | |
| NM_000482.4:c.175A>C MANE Select | NP_000473.2:p.Asn59His |