Linked Data
ClinVar Variation Id:
1789263
ClinVar RCV Id:
RCV002446306
dbSNP Id:
rs1199531123
gnomAD v2:
2-44066214-G-A
gnomAD v4:
2-43839075-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43839075G>A , CM000664.2:g.43839075G>A | GRCh38 |
| NC_000002.11:g.44066214G>A , CM000664.1:g.44066214G>A | GRCh37 |
| NC_000002.10:g.43919718G>A | NCBI36 |
| NG_008883.1:g.4745C>T | |
| NG_008884.1:g.5112G>A | |
| NG_008884.2:g.12134G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272286.4:c.22G>A MANE Select | ENSP00000272286.2:p.Glu8Lys | |
| ENST00000643284.1:n.521-5432G>A | ||
| ENST00000644611.1:c.76-5432G>A | ENSP00000495423.1:n.76-5432G>A | |
| ENST00000272286.2:c.22G>A | ENSP00000272286.2:p.Glu8Lys | |
| NM_022437.2:c.22G>A | NP_071882.1:p.Glu8Lys | |
| XM_005264483.2:c.22G>A | XP_005264540.1:p.Glu8Lys | |
| XM_011533029.1:c.76-5432G>A | XP_011531331.1:n.76-5432G>A | |
| XM_011533030.1:c.76-5432G>A | XP_011531332.1:n.76-5432G>A | |
| XM_011533031.1:c.-153-5432G>A | XP_011531333.1:n.-153-5432G>A | |
| XR_939707.1:n.566-5432G>A | ||
| NM_001357321.1:c.22G>A | NP_001344250.1:p.Glu8Lys | |
| XM_011533029.2:c.76-5432G>A | XP_011531331.1:n.76-5432G>A | |
| XM_011533030.2:c.76-5432G>A | XP_011531332.1:n.76-5432G>A | |
| XR_001738891.1:n.580-5432G>A | ||
| XR_939707.2:n.580-5432G>A | ||
| NM_022437.3:c.22G>A MANE Select | NP_071882.1:p.Glu8Lys | |
| NM_001357321.2:c.22G>A | NP_001344250.1:p.Glu8Lys |