Linked Data
ClinVar Variation Id:
541707
ClinVar RCV Id:
RCV001576006
dbSNP Id:
rs147650614
ExAC:
2:170371159 G / T
gnomAD v2:
2-170371159-G-T
gnomAD v3:
2-169514649-G-T
gnomAD v4:
2-169514649-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169514649G>T , CM000664.2:g.169514649G>T | GRCh38 |
| NC_000002.11:g.170371159G>T , CM000664.1:g.170371159G>T | GRCh37 |
| NC_000002.10:g.170079405G>T | NCBI36 |
| NG_042051.1:g.9948G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000284669.2:c.1186G>T MANE Select | ENSP00000284669.1:p.Val396Leu | |
| ENST00000284669.1:c.1186G>T | ENSP00000284669.1:p.Val396Leu | |
| ENST00000463400.1:n.190G>T | ||
| ENST00000480330.5:n.159G>T | ||
| ENST00000513963.1:c.1000G>T | ENSP00000424363.1:p.Val334Leu | |
| NM_006063.2:c.1186G>T | NP_006054.2:p.Val396Leu | |
| NM_006063.3:c.1186G>T MANE Select | NP_006054.2:p.Val396Leu |