Linked Data
dbSNP Id:
rs147708648
gnomAD v2:
20-56137858-G-T
gnomAD v3:
20-57562802-G-T
gnomAD v4:
20-57562802-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57562802G>T , CM000682.2:g.57562802G>T | GRCh38 |
| NC_000020.10:g.56137858G>T , CM000682.1:g.56137858G>T | GRCh37 |
| NC_000020.9:g.55571264G>T | NCBI36 |
| NG_008205.1:g.6722G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.513G>T MANE Select | ENSP00000319814.4:p.Arg171= | |
| ENST00000319441.5:c.513G>T | ENSP00000319814.4:p.Arg171= | |
| ENST00000467047.1:n.1723G>T | ||
| ENST00000498194.1:n.455G>T | ||
| NM_002591.3:c.513G>T | NP_002582.3:p.Arg171= | |
| XM_011528839.1:c.117G>T | XP_011527141.1:p.Arg39= | |
| XM_024451888.1:c.117G>T | XP_024307656.1:p.Arg39= | |
| NM_002591.4:c.513G>T MANE Select | NP_002582.3:p.Arg171= |