Linked Data
ClinVar Variation Id:
1751856
ClinVar RCV Id:
RCV002360404
dbSNP Id:
rs751605021
ExAC:
5:127636530 C / G
gnomAD v2:
5-127636530-C-G
gnomAD v3:
5-128300838-C-G
gnomAD v4:
5-128300838-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128300838C>G , CM000667.2:g.128300838C>G | GRCh38 |
| NC_000005.9:g.127636530C>G , CM000667.1:g.127636530C>G | GRCh37 |
| NC_000005.8:g.127664429C>G | NCBI36 |
| NG_008750.1:g.242206G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.2929G>C | ||
| ENST00000703785.1:n.2848G>C | ||
| ENST00000262464.9:c.6145G>C MANE Select | ENSP00000262464.4:p.Val2049Leu | |
| ENST00000262464.8:c.6145G>C | ENSP00000262464.4:p.Val2049Leu | |
| ENST00000508053.5:c.6145G>C | ENSP00000424571.1:p.Val2049Leu | |
| ENST00000619499.4:c.6142G>C | ENSP00000482132.1:p.Val2048Leu | |
| NM_001999.3:c.6145G>C | NP_001990.2:p.Val2049Leu | |
| XM_017009228.2:c.5992G>C | XP_016864717.1:p.Val1998Leu | |
| NM_001999.4:c.6145G>C MANE Select | NP_001990.2:p.Val2049Leu |