Linked Data
ClinVar Variation Id:
2197631
ClinVar RCV Id:
RCV002637844
dbSNP Id:
rs374853290
ExAC:
11:2190987 C / T
gnomAD v2:
11-2190987-C-T
gnomAD v3:
11-2169757-C-T
gnomAD v4:
11-2169757-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2169757C>T , CM000673.2:g.2169757C>T | GRCh38 |
| NC_000011.9:g.2190987C>T , CM000673.1:g.2190987C>T | GRCh37 |
| NC_000011.8:g.2147563C>T | NCBI36 |
| NG_008128.1:g.7049G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000352909.8:c.205G>A MANE Select | ENSP00000325951.4:p.Glu69Lys | |
| ENST00000324155.8:c.91-62G>A | ENSP00000325831.3:n.91-62G>A | |
| ENST00000333684.9:c.205G>A | ENSP00000328814.6:p.Glu69Lys | |
| ENST00000352909.7:c.205G>A | ENSP00000325951.3:p.Glu69Lys | |
| ENST00000381168.7:c.103-62G>A | ENSP00000370560.3:n.103-62G>A | |
| ENST00000381175.5:c.286G>A | ENSP00000370567.1:p.Glu96Lys | |
| ENST00000381178.5:c.298G>A | ENSP00000370571.1:p.Glu100Lys | |
| NM_000360.3:c.205G>A | NP_000351.2:p.Glu69Lys | |
| NM_199292.2:c.298G>A | NP_954986.2:p.Glu100Lys | |
| NM_199293.2:c.286G>A | NP_954987.2:p.Glu96Lys | |
| XM_011520335.1:c.217G>A | XP_011518637.1:p.Glu73Lys | |
| XM_011520335.2:c.217G>A | XP_011518637.1:p.Glu73Lys | |
| NM_000360.4:c.205G>A MANE Select | NP_000351.2:p.Glu69Lys | |
| NM_199292.3:c.298G>A | NP_954986.2:p.Glu100Lys | |
| NM_199293.3:c.286G>A | NP_954987.2:p.Glu96Lys |