Linked Data
ClinVar Variation Id:
939403
ClinVar RCV Id:
RCV001208801
dbSNP Id:
rs775411755
ExAC:
16:30198185 G / A
gnomAD v2:
16-30198185-G-A
gnomAD v4:
16-30186864-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30186864G>A , CM000678.2:g.30186864G>A | GRCh38 |
| NC_000016.9:g.30198185G>A , CM000678.1:g.30198185G>A | GRCh37 |
| NC_000016.8:g.30105686G>A | NCBI36 |
| NG_023415.1:g.8260G>A , LRG_195:g.8260G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696217.1:n.451G>A | ||
| ENST00000219150.10:c.370G>A MANE Select | ENSP00000219150.6:p.Val124Ile | |
| ENST00000219150.9:c.370G>A | ENSP00000219150.5:p.Val124Ile | |
| ENST00000561815.5:c.478G>A | ENSP00000456756.1:p.Val160Ile | |
| ENST00000563778.5:c.370G>A | ENSP00000456266.1:p.Val124Ile | |
| ENST00000564768.1:n.183G>A | ||
| ENST00000565497.5:c.370G>A | ENSP00000456457.1:p.Val124Ile | |
| ENST00000567034.5:n.838G>A | ||
| ENST00000568763.1:n.1682G>A | ||
| ENST00000568982.5:n.488G>A | ||
| ENST00000569203.5:c.370G>A | ENSP00000454752.1:p.Val124Ile | |
| ENST00000569469.1:n.431+144G>A | ||
| ENST00000569970.1:c.370G>A | ENSP00000457509.1:p.Val124Ile | |
| ENST00000570045.5:c.370G>A | ENSP00000455552.1:p.Val124Ile | |
| ENST00000570244.5:c.247G>A | ENSP00000457332.1:p.Val83Ile | |
| NM_001193333.2:c.370G>A | NP_001180262.1:p.Val124Ile | |
| NM_007074.3:c.370G>A | NP_009005.1:p.Val124Ile | |
| XM_011545714.1:c.370G>A | XP_011544016.1:p.Val124Ile | |
| XM_011545714.2:c.370G>A | XP_011544016.1:p.Val124Ile | |
| XM_017022885.2:c.370G>A | XP_016878374.1:p.Val124Ile | |
| XM_017022886.1:c.370G>A | XP_016878375.1:p.Val124Ile | |
| NM_007074.4:c.370G>A MANE Select | NP_009005.1:p.Val124Ile | |
| NM_001193333.3:c.370G>A | NP_001180262.1:p.Val124Ile |