Linked Data
ClinVar Variation Id:
944986
dbSNP Id:
rs749016081
ExAC:
2:29443664 C / A
gnomAD v2:
2-29443664-C-A
gnomAD v4:
2-29220798-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29220798C>A , CM000664.2:g.29220798C>A | GRCh38 |
| NC_000002.11:g.29443664C>A , CM000664.1:g.29443664C>A | GRCh37 |
| NC_000002.10:g.29297168C>A | NCBI36 |
| NG_009445.1:g.705769G>T , LRG_488:g.705769G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3553G>T MANE Select | ENSP00000373700.3:p.Val1185Leu | |
| ENST00000431873.6:c.780G>T | ||
| ENST00000638605.1:n.430G>T | ||
| ENST00000642122.1:c.349G>T | ENSP00000493203.1:p.Val117Leu | |
| ENST00000389048.7:c.3553G>T | ENSP00000373700.3:p.Val1185Leu | |
| ENST00000431873.5:c.433G>T | ENSP00000414027.2:p.Val145Leu | |
| ENST00000618119.4:c.2422G>T | ENSP00000482733.1:p.Val808Leu | |
| NM_004304.4:c.3553G>T | NP_004295.2:p.Val1185Leu | |
| NM_001353765.1:c.349G>T | NP_001340694.1:p.Val117Leu | |
| XM_024452778.1:c.706G>T | XP_024308546.1:p.Val236Leu | |
| XM_024452779.1:c.349G>T | XP_024308547.1:p.Val117Leu | |
| NM_004304.5:c.3553G>T MANE Select | NP_004295.2:p.Val1185Leu | |
| NM_001353765.2:c.349G>T | NP_001340694.1:p.Val117Leu |