Linked Data
dbSNP Id:
rs536838795
gnomAD v2:
17-42449584-G-T
gnomAD v3:
17-44372216-G-T
gnomAD v4:
17-44372216-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44372216G>T , CM000679.2:g.44372216G>T | GRCh38 |
| NC_000017.10:g.42449584G>T , CM000679.1:g.42449584G>T | GRCh37 |
| NC_000017.9:g.39805110G>T | NCBI36 |
| NG_008331.1:g.22290C>A , LRG_479:g.22290C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.*148C>A MANE Select | ENSP00000262407.5:n.*148C>A | |
| ENST00000648408.1:c.2582C>A | ||
| ENST00000262407.5:c.*148C>A | ENSP00000262407.5:n.*148C>A | |
| ENST00000587295.5:c.461C>A | ||
| ENST00000588098.1:c.245C>A | ||
| NM_000419.3:c.*148C>A , LRG_479t1:c.*148C>A | NP_000410.2:n.*148C>A | |
| XM_011524749.1:c.*148C>A | XP_011523051.1:n.*148C>A | |
| XM_011524750.1:c.*148C>A | XP_011523052.1:n.*148C>A | |
| NM_000419.4:c.*148C>A | NP_000410.2:n.*148C>A | |
| NM_000419.5:c.*148C>A MANE Select | NP_000410.2:n.*148C>A |