Linked Data
gnomAD v4:
17-44372366-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44372366A>G , CM000679.2:g.44372366A>G | GRCh38 |
| NC_000017.10:g.42449734A>G , CM000679.1:g.42449734A>G | GRCh37 |
| NC_000017.9:g.39805260A>G | NCBI36 |
| NG_008331.1:g.22140T>C , LRG_479:g.22140T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.3118T>C MANE Select | ENSP00000262407.5:p.Ter1040Arg | |
| ENST00000648408.1:c.2432T>C | ||
| ENST00000262407.5:c.3118T>C | ENSP00000262407.5:p.Ter1040Arg | |
| ENST00000587295.5:c.311T>C | ||
| ENST00000588098.1:c.95T>C | ||
| NM_000419.3:c.3118T>C , LRG_479t1:c.3118T>C | NP_000410.2:p.Ter1040Arg | |
| XM_011524749.1:c.3016T>C | XP_011523051.1:p.Ter1006Arg | |
| XM_011524750.1:c.3001T>C | XP_011523052.1:p.Ter1001Arg | |
| NM_000419.4:c.3118T>C | NP_000410.2:p.Ter1040Arg | |
| NM_000419.5:c.3118T>C MANE Select | NP_000410.2:p.Ter1040Arg |