Linked Data
ClinVar Variation Id:
9114
dbSNP Id:
rs137852667
ExAC:
11:68702872 G / A
gnomAD v2:
11-68702872-G-A
gnomAD v4:
11-68935404-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68935404G>A , CM000673.2:g.68935404G>A | GRCh38 |
| NC_000011.9:g.68702872G>A , CM000673.1:g.68702872G>A | GRCh37 |
| NC_000011.8:g.68459448G>A | NCBI36 |
| NG_007976.1:g.36554G>A , LRG_250:g.36554G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000255078.8:c.1738G>A MANE Select | ENSP00000255078.4:p.Val580Ile | |
| ENST00000674955.1:c.*455G>A | ENSP00000502463.1:n.*455G>A | |
| ENST00000675118.1:c.1226G>A | ||
| ENST00000675615.1:c.1738G>A | ENSP00000502413.1:p.Val580Ile | |
| ENST00000675648.1:n.1113G>A | ||
| ENST00000676173.1:n.2483G>A | ||
| ENST00000676182.1:c.169G>A | ||
| ENST00000676228.1:c.*1061G>A | ENSP00000502375.1:n.*1061G>A | |
| ENST00000255078.7:c.1738G>A | ENSP00000255078.3:p.Val580Ile | |
| ENST00000539064.5:n.1497G>A | ||
| ENST00000541229.5:n.433G>A | ||
| ENST00000543739.5:n.750-833G>A | ||
| ENST00000545475.1:n.334G>A | ||
| NM_002180.2:c.1738G>A , LRG_250t1:c.1738G>A | NP_002171.2:p.Val580Ile | |
| XM_005273974.2:c.727G>A | XP_005274031.1:p.Val243Ile | |
| XM_005273975.2:c.610G>A | XP_005274032.1:p.Val204Ile | |
| XM_011544994.1:c.505G>A | XP_011543296.1:p.Val169Ile | |
| XR_949903.1:n.1840G>A | ||
| XM_005273975.3:c.610G>A | XP_005274032.1:p.Val204Ile | |
| XM_017017669.2:c.727G>A | XP_016873158.1:p.Val243Ile | |
| XM_017017670.2:c.727G>A | XP_016873159.1:p.Val243Ile | |
| XM_017017671.2:c.*65G>A | XP_016873160.1:n.*65G>A | |
| XR_949903.3:n.1836G>A | ||
| NM_002180.3:c.1738G>A MANE Select | NP_002171.2:p.Val580Ile |