Linked Data
ClinVar Variation Id:
286517
dbSNP Id:
rs147958141
ExAC:
17:1560055 A / G
gnomAD v2:
17-1560055-A-G
gnomAD v3:
17-1656761-A-G
gnomAD v4:
17-1656761-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1656761A>G , CM000679.2:g.1656761A>G | GRCh38 |
| NC_000017.10:g.1560055A>G , CM000679.1:g.1560055A>G | GRCh37 |
| NC_000017.9:g.1506805A>G | NCBI36 |
| NG_009118.1:g.33122T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000573725.2:c.5326T>C | ENSP00000460849.2:p.Leu1776= | |
| ENST00000703537.1:c.1317T>C | ||
| ENST00000703538.1:c.*5229T>C | ENSP00000515361.1:n.*5229T>C | |
| ENST00000703539.1:n.1820T>C | ||
| ENST00000703540.1:c.5359T>C | ENSP00000515362.1:p.Leu1787= | |
| ENST00000703541.1:c.5371T>C | ENSP00000515363.1:p.Leu1791= | |
| ENST00000304992.11:c.5506T>C MANE Select | ENSP00000304350.6:p.Leu1836= | |
| ENST00000304992.10:c.5506T>C | ENSP00000304350.6:p.Leu1836= | |
| ENST00000572621.5:c.5506T>C | ENSP00000460348.1:p.Leu1836= | |
| NM_006445.3:c.5506T>C | NP_006436.3:p.Leu1836= | |
| XM_024450537.1:c.5506T>C | XP_024306305.1:p.Leu1836= | |
| NM_006445.4:c.5506T>C MANE Select | NP_006436.3:p.Leu1836= |