Linked Data
ClinVar Variation Id:
2683131
ClinVar RCV Id:
RCV003481998
dbSNP Id:
rs776878220
ExAC:
11:2192965 C / T
gnomAD v2:
11-2192965-C-T
gnomAD v3:
11-2171735-C-T
gnomAD v4:
11-2171735-C-T
COSMIC:
COSM6041128
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2171735C>T , CM000673.2:g.2171735C>T | GRCh38 |
| NC_000011.9:g.2192965C>T , CM000673.1:g.2192965C>T | GRCh37 |
| NC_000011.8:g.2149541C>T | NCBI36 |
| NG_008128.1:g.5071G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352909.8:c.52G>A MANE Select | ENSP00000325951.4:p.Val18Met | |
| ENST00000324155.8:c.52G>A | ENSP00000325831.3:p.Val18Met | |
| ENST00000333684.9:c.52G>A | ENSP00000328814.6:p.Val18Met | |
| ENST00000352909.7:c.52G>A | ENSP00000325951.3:p.Val18Met | |
| ENST00000381168.7:c.52G>A | ENSP00000370560.3:p.Val18Met | |
| ENST00000381175.5:c.52G>A | ENSP00000370567.1:p.Val18Met | |
| ENST00000381178.5:c.52G>A | ENSP00000370571.1:p.Val18Met | |
| NM_000360.3:c.52G>A | NP_000351.2:p.Val18Met | |
| NM_199292.2:c.52G>A | NP_954986.2:p.Val18Met | |
| NM_199293.2:c.52G>A | NP_954987.2:p.Val18Met | |
| XM_011520335.1:c.52G>A | XP_011518637.1:p.Val18Met | |
| XM_011520335.2:c.52G>A | XP_011518637.1:p.Val18Met | |
| NM_000360.4:c.52G>A MANE Select | NP_000351.2:p.Val18Met | |
| NM_199292.3:c.52G>A | NP_954986.2:p.Val18Met | |
| NM_199293.3:c.52G>A | NP_954987.2:p.Val18Met |