Linked Data
ClinVar Variation Id:
1805880
ClinVar RCV Id:
RCV002472298
dbSNP Id:
rs1171052012
gnomAD v2:
16-2156564-C-T
gnomAD v4:
16-2106563-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2106563C>T , CM000678.2:g.2106563C>T | GRCh38 |
| NC_000016.9:g.2156564C>T , CM000678.1:g.2156564C>T | GRCh37 |
| NC_000016.8:g.2096565C>T | NCBI36 |
| NG_008617.1:g.34336G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.7324G>A MANE Select | ENSP00000262304.4:p.Glu2442Lys | |
| ENST00000262304.8:c.7324G>A | ENSP00000262304.4:p.Glu2442Lys | |
| ENST00000415938.7:n.569G>A | ||
| ENST00000423118.5:c.7324G>A | ENSP00000399501.1:p.Glu2442Lys | |
| ENST00000483558.5:n.383G>A | ||
| ENST00000483731.5:n.1049G>A | ||
| ENST00000486339.6:n.1070G>A | ||
| ENST00000487932.5:c.2011G>A | ENSP00000457132.1:p.Glu671Lys | |
| ENST00000496574.6:n.1327G>A | ||
| ENST00000565639.6:n.1032G>A | ||
| ENST00000568591.5:c.2485G>A | ENSP00000457162.1:n.2485G>A | |
| ENST00000569983.5:n.680G>A | ||
| NM_000296.3:c.7324G>A | NP_000287.3:p.Glu2442Lys | |
| NM_001009944.2:c.7324G>A | NP_001009944.2:p.Glu2442Lys | |
| XM_005255370.2:c.4279G>A | XP_005255427.1:p.Glu1427Lys | |
| XM_011522525.1:c.7402G>A | XP_011520827.1:p.Glu2468Lys | |
| XM_011522526.1:c.7402G>A | XP_011520828.1:p.Glu2468Lys | |
| XM_011522527.1:c.7402G>A | XP_011520829.1:p.Glu2468Lys | |
| XM_011522528.1:c.7378G>A | XP_011520830.1:p.Glu2460Lys | |
| XM_011522529.1:c.7378G>A | XP_011520831.1:p.Glu2460Lys | |
| XM_011522530.1:c.7348G>A | XP_011520832.1:p.Glu2450Lys | |
| XM_011522531.1:c.7330G>A | XP_011520833.1:p.Glu2444Lys | |
| XM_011522532.1:c.7276G>A | XP_011520834.1:p.Glu2426Lys | |
| XM_011522533.1:c.7195G>A | XP_011520835.1:p.Glu2399Lys | |
| XM_011522534.1:c.7138G>A | XP_011520836.1:p.Glu2380Lys | |
| XM_011522535.1:c.5224G>A | XP_011520837.1:p.Glu1742Lys | |
| XM_011522536.1:c.7402G>A | XP_011520838.1:p.Glu2468Lys | |
| XM_011522537.1:c.4402G>A | XP_011520839.1:p.Glu1468Lys | |
| XR_932867.1:n.7417G>A | ||
| XR_932868.1:n.7417G>A | ||
| XR_932869.1:n.7417G>A | ||
| XR_932870.1:n.7417G>A | ||
| XM_005255370.3:c.4279G>A | XP_005255427.1:p.Glu1427Lys | |
| XM_011522528.3:c.7378G>A | XP_011520830.1:p.Glu2460Lys | |
| XM_011522529.2:c.7378G>A | XP_011520831.1:p.Glu2460Lys | |
| XM_011522537.2:c.4402G>A | XP_011520839.1:p.Glu1468Lys | |
| XM_024450298.1:c.7444G>A | XP_024306066.1:p.Glu2482Lys | |
| XM_024450299.1:c.7372G>A | XP_024306067.1:p.Glu2458Lys | |
| XM_024450300.1:c.7234G>A | XP_024306068.1:p.Glu2412Lys | |
| XM_024450301.1:c.5320G>A | XP_024306069.1:p.Glu1774Lys | |
| NM_000296.4:c.7324G>A | NP_000287.4:p.Glu2442Lys | |
| NM_001009944.3:c.7324G>A MANE Select | NP_001009944.3:p.Glu2442Lys |