Linked Data
dbSNP Id:
rs10918169
ExAC:
1:165370475 G / C
gnomAD v2:
1-165370475-G-C
gnomAD v3:
1-165401238-G-C
gnomAD v4:
1-165401238-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.165401238G>C , CM000663.2:g.165401238G>C | GRCh38 |
| NC_000001.10:g.165370475G>C , CM000663.1:g.165370475G>C | GRCh37 |
| NC_000001.9:g.163637099G>C | NCBI36 |
| NG_029517.1:g.49118C>G | |
| NG_029517.2:g.49118C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000359842.10:c.*25C>G MANE Select | ENSP00000352900.5:n.*25C>G | |
| ENST00000359842.9:c.*25C>G | ENSP00000352900.5:n.*25C>G | |
| ENST00000619224.1:c.*25C>G | ENSP00000482458.1:n.*25C>G | |
| NM_001256570.1:c.*25C>G | NP_001243499.1:n.*25C>G | |
| NM_001256571.1:c.*25C>G | NP_001243500.1:n.*25C>G | |
| NM_006917.4:c.*25C>G | NP_008848.1:n.*25C>G | |
| NM_006917.5:c.*25C>G MANE Select | NP_008848.1:n.*25C>G | |
| NM_001256571.2:c.*25C>G | NP_001243500.1:n.*25C>G | |
| NM_001256570.2:c.*25C>G | NP_001243499.1:n.*25C>G |