Linked Data
ClinVar Variation Id:
1050112
ClinVar RCV Id:
RCV001357035
dbSNP Id:
rs766035407
gnomAD v2:
1-152280119-G-T
gnomAD v3:
1-152307643-G-T
gnomAD v4:
1-152307643-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152307643G>T , CM000663.2:g.152307643G>T | GRCh38 |
| NC_000001.10:g.152280119G>T , CM000663.1:g.152280119G>T | GRCh37 |
| NC_000001.9:g.150546743G>T | NCBI36 |
| NG_016190.1:g.22561C>A , LRG_1028:g.22561C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.7243C>A MANE Select | ENSP00000357789.1:p.Leu2415Ile | |
| ENST00000368799.1:c.7243C>A | ENSP00000357789.1:p.Leu2415Ile | |
| NM_002016.1:c.7243C>A , LRG_1028t1:c.7243C>A | NP_002007.1:p.Leu2415Ile | |
| XM_011509329.1:c.7243C>A | XP_011507631.1:p.Leu2415Ile | |
| NM_002016.2:c.7243C>A MANE Select | NP_002007.1:p.Leu2415Ile |