Linked Data
dbSNP Id:
rs12043633
gnomAD v2:
1-225676571-G-A
gnomAD v3:
1-225488869-G-A
gnomAD v4:
1-225488869-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.225488869G>A , CM000663.2:g.225488869G>A | GRCh38 |
| NC_000001.10:g.225676571G>A , CM000663.1:g.225676571G>A | GRCh37 |
| NC_000001.9:g.223743194G>A | NCBI36 |
| NG_051578.1:g.176177C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696609.1:c.*8906C>T | ENSP00000512753.1:n.*8906C>T | |
| ENST00000366843.7:c.*8906C>T MANE Select | ENSP00000355808.2:n.*8906C>T | |
| ENST00000366844.7:c.*8906C>T | ENSP00000355809.2:n.*8906C>T | |
| NM_001008493.1:c.*8906C>T | NP_001008493.1:n.*8906C>T | |
| NM_018212.4:c.*8906C>T | NP_060682.2:n.*8906C>T | |
| NM_001008493.2:c.*8906C>T | NP_001008493.1:n.*8906C>T | |
| NM_018212.5:c.*8906C>T | NP_060682.2:n.*8906C>T | |
| XM_017001751.1:c.*8906C>T | XP_016857240.1:n.*8906C>T | |
| XM_024448309.1:c.*8906C>T | XP_024304077.1:n.*8906C>T | |
| XM_024448310.1:c.*8906C>T | XP_024304078.1:n.*8906C>T | |
| XM_024448311.1:c.*8906C>T | XP_024304079.1:n.*8906C>T | |
| XM_024448313.1:c.*8906C>T | XP_024304081.1:n.*8906C>T | |
| XM_024448314.1:c.*8906C>T | XP_024304082.1:n.*8906C>T | |
| XM_024448315.1:c.*8906C>T | XP_024304083.1:n.*8906C>T | |
| XM_024448316.1:c.*8906C>T | XP_024304084.1:n.*8906C>T | |
| XM_024448317.1:c.*8906C>T | XP_024304085.1:n.*8906C>T | |
| NM_001008493.3:c.*8906C>T | NP_001008493.1:n.*8906C>T | |
| NM_001377481.1:c.*8906C>T | NP_001364410.1:n.*8906C>T | |
| NM_001377482.1:c.*8906C>T | NP_001364411.1:n.*8906C>T | |
| NM_001377483.1:c.*8906C>T | NP_001364412.1:n.*8906C>T | |
| NM_018212.6:c.*8906C>T MANE Select | NP_060682.2:n.*8906C>T |