Linked Data
ClinVar Variation Id:
252591
ClinVar RCV Id:
RCV000239267
dbSNP Id:
rs200498749
ExAC:
18:24436192 C / T
gnomAD v2:
18-24436192-C-T
gnomAD v3:
18-26856228-C-T
gnomAD v4:
18-26856228-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.26856228C>T , CM000680.2:g.26856228C>T | GRCh38 |
| NC_000018.9:g.24436192C>T , CM000680.1:g.24436192C>T | GRCh37 |
| NC_000018.8:g.22690190C>T | NCBI36 |
| NG_029560.1:g.14525G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383168.9:c.955G>A MANE Select | ENSP00000372654.4:p.Val319Ile | |
| ENST00000672188.1:c.955G>A | ENSP00000500720.1:p.Val319Ile | |
| ENST00000672981.2:c.955G>A | ENSP00000500598.2:p.Val319Ile | |
| ENST00000675739.1:c.874G>A | ENSP00000502364.1:p.Val292Ile | |
| ENST00000383168.8:c.955G>A | ENSP00000372654.4:p.Val319Ile | |
| ENST00000440832.7:c.889G>A | ENSP00000393121.3:p.Val297Ile | |
| ENST00000581374.5:c.889G>A | ENSP00000462597.1:p.Val297Ile | |
| ENST00000622234.4:c.874G>A | ENSP00000484446.1:p.Val292Ile | |
| NM_001650.4:c.955G>A | NP_001641.1:p.Val319Ile | |
| NM_004028.3:c.889G>A | NP_004019.1:p.Val297Ile | |
| XM_011525942.1:c.934G>A | XP_011524244.1:p.Val312Ile | |
| NM_001317384.2:c.955G>A | NP_001304313.1:p.Val319Ile | |
| NM_001317387.2:c.874G>A | NP_001304316.1:p.Val292Ile | |
| NM_001364286.1:c.889G>A | NP_001351215.1:p.Val297Ile | |
| NM_001364287.1:c.889G>A | NP_001351216.1:p.Val297Ile | |
| NM_001364289.1:c.889G>A | NP_001351218.1:p.Val297Ile | |
| NM_001650.6:c.955G>A | NP_001641.1:p.Val319Ile | |
| NM_004028.4:c.889G>A | NP_004019.1:p.Val297Ile | |
| XM_011525942.3:c.934G>A | XP_011524244.1:p.Val312Ile | |
| NM_001650.7:c.955G>A MANE Select | NP_001641.1:p.Val319Ile | |
| NM_001317384.3:c.955G>A | NP_001304313.1:p.Val319Ile | |
| NM_001317387.3:c.874G>A | NP_001304316.1:p.Val292Ile | |
| NM_001364289.2:c.889G>A | NP_001351218.1:p.Val297Ile | |
| NM_004028.5:c.889G>A | NP_004019.1:p.Val297Ile |