Linked Data
dbSNP Id:
rs756428017
ExAC:
1:229568089 G / C
gnomAD v2:
1-229568089-G-C
gnomAD v4:
1-229432342-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432342G>C , CM000663.2:g.229432342G>C | GRCh38 |
| NC_000001.10:g.229568089G>C , CM000663.1:g.229568089G>C | GRCh37 |
| NC_000001.9:g.227634712G>C | NCBI36 |
| NG_006672.1:g.6755C>G , LRG_429:g.6755C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.544C>G | ENSP00000355644.4:p.Leu182Val | |
| ENST00000684723.1:c.409C>G | ENSP00000508084.1:p.Leu137Val | |
| ENST00000366683.3:c.479+65C>G | ENSP00000355644.3:n.479+65C>G | |
| ENST00000366684.7:c.544C>G MANE Select | ENSP00000355645.3:p.Leu182Val | |
| NM_001100.3:c.544C>G , LRG_429t1:c.544C>G | NP_001091.1:p.Leu182Val | |
| NM_001100.4:c.544C>G MANE Select | NP_001091.1:p.Leu182Val |