Linked Data
ClinVar Variation Id:
2888673
ClinVar RCV Id:
RCV003606701
dbSNP Id:
rs755197006
ExAC:
17:42449791 C / A
gnomAD v2:
17-42449791-C-A
gnomAD v4:
17-44372423-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44372423C>A , CM000679.2:g.44372423C>A | GRCh38 |
| NC_000017.10:g.42449791C>A , CM000679.1:g.42449791C>A | GRCh37 |
| NC_000017.9:g.39805317C>A | NCBI36 |
| NG_008331.1:g.22083G>T , LRG_479:g.22083G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.3061G>T MANE Select | ENSP00000262407.5:p.Val1021Phe | |
| ENST00000648408.1:c.2375G>T | ||
| ENST00000262407.5:c.3061G>T | ENSP00000262407.5:p.Val1021Phe | |
| ENST00000587295.5:c.254G>T | ||
| ENST00000588098.1:c.38G>T | ||
| NM_000419.3:c.3061G>T , LRG_479t1:c.3061G>T | NP_000410.2:p.Val1021Phe | |
| XM_011524749.1:c.2959G>T | XP_011523051.1:p.Val987Phe | |
| XM_011524750.1:c.2944G>T | XP_011523052.1:p.Val982Phe | |
| NM_000419.4:c.3061G>T | NP_000410.2:p.Val1021Phe | |
| NM_000419.5:c.3061G>T MANE Select | NP_000410.2:p.Val1021Phe |