Linked Data
ClinVar Variation Id:
1664232
ClinVar RCV Id:
RCV002191025
dbSNP Id:
rs1378296581
gnomAD v2:
11-2190988-C-T
gnomAD v3:
11-2169758-C-T
gnomAD v4:
11-2169758-C-T
COSMIC:
COSM2112505
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2169758C>T , CM000673.2:g.2169758C>T | GRCh38 |
| NC_000011.9:g.2190988C>T , CM000673.1:g.2190988C>T | GRCh37 |
| NC_000011.8:g.2147564C>T | NCBI36 |
| NG_008128.1:g.7048G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000352909.8:c.204G>A MANE Select | ENSP00000325951.4:p.Leu68= | |
| ENST00000324155.8:c.91-63G>A | ENSP00000325831.3:n.91-63G>A | |
| ENST00000333684.9:c.204G>A | ENSP00000328814.6:p.Leu68= | |
| ENST00000352909.7:c.204G>A | ENSP00000325951.3:p.Leu68= | |
| ENST00000381168.7:c.103-63G>A | ENSP00000370560.3:n.103-63G>A | |
| ENST00000381175.5:c.285G>A | ENSP00000370567.1:p.Leu95= | |
| ENST00000381178.5:c.297G>A | ENSP00000370571.1:p.Leu99= | |
| NM_000360.3:c.204G>A | NP_000351.2:p.Leu68= | |
| NM_199292.2:c.297G>A | NP_954986.2:p.Leu99= | |
| NM_199293.2:c.285G>A | NP_954987.2:p.Leu95= | |
| XM_011520335.1:c.216G>A | XP_011518637.1:p.Leu72= | |
| XM_011520335.2:c.216G>A | XP_011518637.1:p.Leu72= | |
| NM_000360.4:c.204G>A MANE Select | NP_000351.2:p.Leu68= | |
| NM_199292.3:c.297G>A | NP_954986.2:p.Leu99= | |
| NM_199293.3:c.285G>A | NP_954987.2:p.Leu95= |