Linked Data
ClinVar Variation Id:
946161
dbSNP Id:
rs751306825
ExAC:
2:29443625 G / T
gnomAD v2:
2-29443625-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29220759G>T , CM000664.2:g.29220759G>T | GRCh38 |
| NC_000002.11:g.29443625G>T , CM000664.1:g.29443625G>T | GRCh37 |
| NC_000002.10:g.29297129G>T | NCBI36 |
| NG_009445.1:g.705808C>A , LRG_488:g.705808C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3592C>A MANE Select | ENSP00000373700.3:p.Leu1198Ile | |
| ENST00000431873.6:c.819C>A | ||
| ENST00000638605.1:n.469C>A | ||
| ENST00000642122.1:c.388C>A | ENSP00000493203.1:p.Leu130Ile | |
| ENST00000389048.7:c.3592C>A | ENSP00000373700.3:p.Leu1198Ile | |
| ENST00000431873.5:c.472C>A | ENSP00000414027.2:p.Leu158Ile | |
| ENST00000618119.4:c.2461C>A | ENSP00000482733.1:p.Leu821Ile | |
| NM_004304.4:c.3592C>A | NP_004295.2:p.Leu1198Ile | |
| NM_001353765.1:c.388C>A | NP_001340694.1:p.Leu130Ile | |
| XM_024452778.1:c.745C>A | XP_024308546.1:p.Leu249Ile | |
| XM_024452779.1:c.388C>A | XP_024308547.1:p.Leu130Ile | |
| NM_004304.5:c.3592C>A MANE Select | NP_004295.2:p.Leu1198Ile | |
| NM_001353765.2:c.388C>A | NP_001340694.1:p.Leu130Ile |