Linked Data
dbSNP Id:
rs375658806
ExAC:
2:209113188 C / T
gnomAD v2:
2-209113188-C-T
gnomAD v3:
2-208248464-C-T
gnomAD v4:
2-208248464-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208248464C>T , CM000664.2:g.208248464C>T | GRCh38 |
| NC_000002.11:g.209113188C>T , CM000664.1:g.209113188C>T | GRCh37 |
| NC_000002.10:g.208821433C>T | NCBI36 |
| NG_023319.2:g.22611G>A , LRG_610:g.22611G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345146.7:c.319G>A MANE Select | ENSP00000260985.2:p.Val107Ile | |
| ENST00000345146.6:c.319G>A | ENSP00000260985.2:p.Val107Ile | |
| ENST00000415282.5:c.319G>A | ENSP00000391075.1:p.Val107Ile | |
| ENST00000415913.5:c.319G>A | ENSP00000390265.1:p.Val107Ile | |
| ENST00000446179.5:c.319G>A | ENSP00000410513.1:p.Val107Ile | |
| ENST00000462386.5:n.532G>A | ||
| NM_001282386.1:c.319G>A , LRG_610t3:c.319G>A | NP_001269315.1:p.Val107Ile | |
| NM_001282387.1:c.319G>A , LRG_610t2:c.319G>A | NP_001269316.1:p.Val107Ile | |
| NM_005896.3:c.319G>A , LRG_610t1:c.319G>A | NP_005887.2:p.Val107Ile | |
| NM_005896.4:c.319G>A MANE Select | NP_005887.2:p.Val107Ile |