Linked Data
gnomAD v4:
17-44372274-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44372274C>G , CM000679.2:g.44372274C>G | GRCh38 |
| NC_000017.10:g.42449642C>G , CM000679.1:g.42449642C>G | GRCh37 |
| NC_000017.9:g.39805168C>G | NCBI36 |
| NG_008331.1:g.22232G>C , LRG_479:g.22232G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.*90G>C MANE Select | ENSP00000262407.5:n.*90G>C | |
| ENST00000648408.1:c.2524G>C | ||
| ENST00000262407.5:c.*90G>C | ENSP00000262407.5:n.*90G>C | |
| ENST00000587295.5:c.403G>C | ||
| ENST00000588098.1:c.187G>C | ||
| NM_000419.3:c.*90G>C , LRG_479t1:c.*90G>C | NP_000410.2:n.*90G>C | |
| XM_011524749.1:c.*90G>C | XP_011523051.1:n.*90G>C | |
| XM_011524750.1:c.*90G>C | XP_011523052.1:n.*90G>C | |
| NM_000419.4:c.*90G>C | NP_000410.2:n.*90G>C | |
| NM_000419.5:c.*90G>C MANE Select | NP_000410.2:n.*90G>C |