Linked Data
gnomAD v4:
1-204190388-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204190388G>A , CM000663.2:g.204190388G>A | GRCh38 |
| NC_000001.10:g.204159516G>A , CM000663.1:g.204159516G>A | GRCh37 |
| NC_000001.9:g.202426139G>A | NCBI36 |
| NG_032151.1:g.11104C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367194.5:c.*96C>T MANE Select | ENSP00000356162.4:n.*96C>T | |
| ENST00000367194.4:c.*96C>T | ENSP00000356162.4:n.*96C>T | |
| NM_002256.3:c.*96C>T | NP_002247.3:n.*96C>T | |
| XM_011509525.1:c.*96C>T | XP_011507827.1:n.*96C>T | |
| NM_002256.4:c.*96C>T MANE Select | NP_002247.3:n.*96C>T |