Linked Data
dbSNP Id:
rs1600706949
gnomAD v4:
20-57562862-A-G
MyVariant Identifiers:
chr20:g.56137918A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57562862A>G , CM000682.2:g.57562862A>G | GRCh38 |
| NC_000020.10:g.56137918A>G , CM000682.1:g.56137918A>G | GRCh37 |
| NC_000020.9:g.55571324A>G | NCBI36 |
| NG_008205.1:g.6782A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.573A>G MANE Select | ENSP00000319814.4:p.Lys191= | |
| ENST00000319441.5:c.573A>G | ENSP00000319814.4:p.Lys191= | |
| ENST00000467047.1:n.1783A>G | ||
| ENST00000470051.1:n.29A>G | ||
| ENST00000498194.1:n.515A>G | ||
| NM_002591.3:c.573A>G | NP_002582.3:p.Lys191= | |
| XM_011528839.1:c.177A>G | XP_011527141.1:p.Lys59= | |
| XM_024451888.1:c.177A>G | XP_024307656.1:p.Lys59= | |
| NM_002591.4:c.573A>G MANE Select | NP_002582.3:p.Lys191= |