Linked Data
ClinVar Variation Id:
1367092
ClinVar RCV Id:
RCV001947106
dbSNP Id:
rs749690208
ExAC:
16:31276723 G / A
gnomAD v2:
16-31276723-G-A
gnomAD v4:
16-31265402-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31265402G>A , CM000678.2:g.31265402G>A | GRCh38 |
| NC_000016.9:g.31276723G>A , CM000678.1:g.31276723G>A | GRCh37 |
| NC_000016.8:g.31184224G>A | NCBI36 |
| NG_011719.1:g.10436G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000544665.9:c.142G>A MANE Select | ENSP00000441691.3:p.Val48Ile | |
| ENST00000648685.1:c.142G>A | ENSP00000496959.1:p.Val48Ile | |
| ENST00000287497.12:c.142G>A | ENSP00000287497.8:p.Val48Ile | |
| ENST00000544665.7:c.142G>A | ENSP00000441691.2:p.Val48Ile | |
| NM_000632.3:c.142G>A | NP_000623.2:p.Val48Ile | |
| NM_001145808.1:c.142G>A | NP_001139280.1:p.Val48Ile | |
| XM_006721045.1:c.142G>A | XP_006721108.1:p.Val48Ile | |
| XM_011545850.1:c.-74G>A | XP_011544152.1:n.-74G>A | |
| XM_011545851.1:c.142G>A | XP_011544153.1:p.Val48Ile | |
| XR_950796.1:n.232G>A | ||
| XM_011545850.2:c.-74G>A | XP_011544152.1:n.-74G>A | |
| XM_011545851.2:c.142G>A | XP_011544153.1:p.Val48Ile | |
| XM_017023216.1:c.142G>A | XP_016878705.1:p.Val48Ile | |
| NM_000632.4:c.142G>A MANE Select | NP_000623.2:p.Val48Ile | |
| NM_001145808.2:c.142G>A | NP_001139280.1:p.Val48Ile |