Linked Data
ClinVar Variation Id:
2270173
ClinVar RCV Id:
RCV004127631
dbSNP Id:
rs761852702
ExAC:
2:61188640 C / T
gnomAD v4:
2-60961505-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.60961505C>T , CM000664.2:g.60961505C>T | GRCh38 |
| NC_000002.11:g.61188640C>T , CM000664.1:g.61188640C>T | GRCh37 |
| NC_000002.10:g.61042144C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316752.11:c.832G>A MANE Select | ENSP00000326003.6:p.Val278Ile | |
| ENST00000316752.10:c.832G>A | ENSP00000326003.6:p.Val278Ile | |
| ENST00000407787.5:c.832G>A | ENSP00000386074.1:p.Val278Ile | |
| ENST00000602599.1:n.3435G>A | ||
| NM_144709.2:c.832G>A | NP_653310.2:p.Val278Ile | |
| XM_006711952.2:c.832G>A | XP_006712015.1:p.Val278Ile | |
| XM_011532568.1:c.832G>A | XP_011530870.1:p.Val278Ile | |
| XM_011532569.1:c.832G>A | XP_011530871.1:p.Val278Ile | |
| XM_011532570.1:c.832G>A | XP_011530872.1:p.Val278Ile | |
| XM_011532571.1:c.832G>A | XP_011530873.1:p.Val278Ile | |
| XM_011532572.1:c.832G>A | XP_011530874.1:p.Val278Ile | |
| XM_011532573.1:c.832G>A | XP_011530875.1:p.Val278Ile | |
| XM_011532574.1:c.832G>A | XP_011530876.1:p.Val278Ile | |
| XM_011532575.1:c.832G>A | XP_011530877.1:p.Val278Ile | |
| XM_011532576.1:c.832G>A | XP_011530878.1:p.Val278Ile | |
| XM_011532577.1:c.832G>A | XP_011530879.1:p.Val278Ile | |
| XM_011532578.1:c.643G>A | XP_011530880.1:p.Val215Ile | |
| NM_001322123.1:c.832G>A | NP_001309052.1:p.Val278Ile | |
| NM_001322124.1:c.832G>A | NP_001309053.1:p.Val278Ile | |
| NM_001322127.1:c.163G>A | NP_001309056.1:p.Val55Ile | |
| NM_144709.3:c.832G>A | NP_653310.2:p.Val278Ile | |
| XM_011532568.3:c.832G>A | XP_011530870.1:p.Val278Ile | |
| XM_011532570.2:c.832G>A | XP_011530872.1:p.Val278Ile | |
| XM_011532571.2:c.832G>A | XP_011530873.1:p.Val278Ile | |
| XM_011532573.3:c.832G>A | XP_011530875.1:p.Val278Ile | |
| XM_011532574.3:c.832G>A | XP_011530876.1:p.Val278Ile | |
| XM_011532576.3:c.832G>A | XP_011530878.1:p.Val278Ile | |
| XM_011532578.2:c.643G>A | XP_011530880.1:p.Val215Ile | |
| XM_017003428.2:c.577G>A | XP_016858917.1:p.Val193Ile | |
| XM_017003429.2:c.577G>A | XP_016858918.1:p.Val193Ile | |
| XM_024452720.1:c.832G>A | XP_024308488.1:p.Val278Ile | |
| NM_144709.4:c.832G>A MANE Select | NP_653310.2:p.Val278Ile |