Linked Data
ClinVar Variation Id:
2188061
ClinVar RCV Id:
RCV002616241
dbSNP Id:
rs751093392
ExAC:
21:38308910 C / T
gnomAD v2:
21-38308910-C-T
gnomAD v4:
21-36936610-C-T
COSMIC:
COSM444433
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.36936610C>T , CM000683.2:g.36936610C>T | GRCh38 |
| NC_000021.8:g.38308910C>T , CM000683.1:g.38308910C>T | GRCh37 |
| NC_000021.7:g.37230780C>T | NCBI36 |
| NG_016193.1:g.58627G>A | |
| NG_016193.2:g.58785G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674895.3:c.1276G>A MANE Select | ENSP00000502087.2:p.Glu426Lys | |
| ENST00000674895.2:c.835G>A | ENSP00000502087.1:p.Glu279Lys | |
| ENST00000675057.1:c.835G>A | ENSP00000501832.1:p.Glu279Lys | |
| ENST00000675307.1:c.835G>A | ENSP00000501750.1:p.Glu279Lys | |
| ENST00000336648.8:c.835G>A | ENSP00000338387.3:p.Glu279Lys | |
| ENST00000399120.5:c.835G>A | ENSP00000382071.1:p.Glu279Lys | |
| ENST00000612277.4:c.835G>A | ENSP00000479939.1:p.Glu279Lys | |
| NM_000411.6:c.835G>A | NP_000402.3:p.Glu279Lys | |
| NM_001242784.1:c.835G>A | NP_001229713.1:p.Glu279Lys | |
| NM_001242785.1:c.835G>A | NP_001229714.1:p.Glu279Lys | |
| XM_005260953.2:c.1276G>A | XP_005261010.1:p.Glu426Lys | |
| XM_005260954.1:c.1276G>A | XP_005261011.1:p.Glu426Lys | |
| XM_005260955.2:c.835G>A | XP_005261012.1:p.Glu279Lys | |
| XM_005260956.2:c.835G>A | XP_005261013.1:p.Glu279Lys | |
| XM_006723994.1:c.835G>A | XP_006724057.1:p.Glu279Lys | |
| XM_006723995.1:c.835G>A | XP_006724058.1:p.Glu279Lys | |
| XM_011529538.1:c.835G>A | XP_011527840.1:p.Glu279Lys | |
| XM_011529539.1:c.835G>A | XP_011527841.1:p.Glu279Lys | |
| XM_011529540.1:c.1276G>A | XP_011527842.1:p.Glu426Lys | |
| XM_011529541.1:c.835G>A | XP_011527843.1:p.Glu279Lys | |
| XM_011529542.1:c.1276G>A | XP_011527844.1:p.Glu426Lys | |
| NM_000411.7:c.835G>A | NP_000402.3:p.Glu279Lys | |
| NM_001242784.2:c.835G>A | NP_001229713.1:p.Glu279Lys | |
| NM_001242785.2:c.835G>A | NP_001229714.1:p.Glu279Lys | |
| NM_001352514.1:c.1276G>A | NP_001339443.1:p.Glu426Lys | |
| NM_001352515.1:c.835G>A | NP_001339444.1:p.Glu279Lys | |
| NM_001352516.1:c.835G>A | NP_001339445.1:p.Glu279Lys | |
| NM_001352517.1:c.835G>A | NP_001339446.1:p.Glu279Lys | |
| NM_001352518.1:c.835G>A | NP_001339447.1:p.Glu279Lys | |
| NR_148020.1:n.1318G>A | ||
| NR_148021.1:n.1292G>A | ||
| XM_011529539.3:c.835G>A | XP_011527841.1:p.Glu279Lys | |
| XM_011529540.2:c.1276G>A | XP_011527842.1:p.Glu426Lys | |
| XM_017028330.1:c.835G>A | XP_016883819.1:p.Glu279Lys | |
| XM_024452065.1:c.664G>A | XP_024307833.1:p.Glu222Lys | |
| XM_024452066.1:c.664G>A | XP_024307834.1:p.Glu222Lys | |
| XR_001754835.1:n.1277G>A | ||
| XR_001754836.1:n.1277G>A | ||
| XR_001754837.2:n.1277G>A | ||
| XR_001754840.1:n.1277G>A | ||
| NM_000411.8:c.835G>A | NP_000402.3:p.Glu279Lys | |
| NM_001242784.3:c.835G>A | NP_001229713.1:p.Glu279Lys | |
| NM_001352514.2:c.1276G>A MANE Select | NP_001339443.1:p.Glu426Lys | |
| NM_001352515.2:c.835G>A | NP_001339444.1:p.Glu279Lys | |
| NM_001352516.2:c.835G>A | NP_001339445.1:p.Glu279Lys | |
| NR_148020.2:n.1135G>A | ||
| NM_001352518.2:c.835G>A | NP_001339447.1:p.Glu279Lys |