Linked Data
dbSNP Id:
rs780579529
ExAC:
1:116311060 C / G
gnomAD v2:
1-116311060-C-G
gnomAD v4:
1-115768439-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115768439C>G , CM000663.2:g.115768439C>G | GRCh38 |
| NC_000001.10:g.116311060C>G , CM000663.1:g.116311060C>G | GRCh37 |
| NC_000001.9:g.116112583C>G | NCBI36 |
| NG_008802.1:g.5367G>C , LRG_404:g.5367G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488931.2:c.-174G>C | ENSP00000518226.1:n.-174G>C | |
| ENST00000261448.6:c.103G>C MANE Select | ENSP00000261448.5:p.Val35Leu | |
| ENST00000261448.5:c.103G>C | ENSP00000261448.5:p.Val35Leu | |
| NM_001232.3:c.103G>C , LRG_404t1:c.103G>C | NP_001223.2:p.Val35Leu | |
| NM_001232.4:c.103G>C MANE Select | NP_001223.2:p.Val35Leu |