Linked Data
ClinVar Variation Id:
339356
dbSNP Id:
rs528096976
ExAC:
20:62560679 A / G
gnomAD v2:
20-62560679-A-G
gnomAD v4:
20-63929326-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63929326A>G , CM000682.2:g.63929326A>G | GRCh38 |
| NC_000020.10:g.62560679A>G , CM000682.1:g.62560679A>G | GRCh37 |
| NC_000020.9:g.62031123A>G | NCBI36 |
| NG_029805.1:g.39225A>G | |
| NG_029805.2:g.39225A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703637.1:c.122A>G | ENSP00000515413.1:p.Lys41Arg | |
| ENST00000360864.9:c.122A>G MANE Select | ENSP00000354111.4:p.Lys41Arg | |
| ENST00000360864.8:c.122A>G | ENSP00000354111.4:p.Lys41Arg | |
| ENST00000470551.1:c.122A>G | ENSP00000434744.1:p.Lys41Arg | |
| NM_025219.2:c.122A>G | NP_079495.1:p.Lys41Arg | |
| XM_011529048.1:c.122A>G | XP_011527350.1:p.Lys41Arg | |
| XM_011529049.1:c.122A>G | XP_011527351.1:p.Lys41Arg | |
| XM_011529050.1:c.122A>G | XP_011527352.1:p.Lys41Arg | |
| XR_936629.1:n.754A>G | ||
| XR_936630.1:n.1012A>G | ||
| XM_011529048.2:c.122A>G | XP_011527350.1:p.Lys41Arg | |
| XR_936629.2:n.767A>G | ||
| NM_025219.3:c.122A>G MANE Select | NP_079495.1:p.Lys41Arg |