Linked Data
gnomAD v4:
22-20242622-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20242622C>G , CM000684.2:g.20242622C>G | GRCh38 |
| NC_000022.10:g.20230145C>G , CM000684.1:g.20230145C>G | GRCh37 |
| NC_000022.9:g.18610145C>G | NCBI36 |
| NG_012176.1:g.30672G>C | |
| NG_012176.2:g.30672G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000043402.8:c.511G>C MANE Select | ENSP00000043402.7:p.Asp171His | |
| ENST00000043402.7:c.511G>C | ENSP00000043402.7:p.Asp171His | |
| ENST00000416372.5:c.570G>C | ||
| ENST00000425986.1:c.768G>C | ||
| ENST00000469601.1:n.647G>C | ||
| NM_023004.5:c.511G>C | NP_075380.1:p.Asp171His | |
| NM_023004.6:c.511G>C MANE Select | NP_075380.1:p.Asp171His |