Linked Data
dbSNP Id:
rs1158242896
gnomAD v2:
1-12040349-G-C
gnomAD v3:
1-11980292-G-C
gnomAD v4:
1-11980292-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11980292G>C , CM000663.2:g.11980292G>C | GRCh38 |
| NC_000001.10:g.12040349G>C , CM000663.1:g.12040349G>C | GRCh37 |
| NC_000001.9:g.11962936G>C | NCBI36 |
| NG_007945.1:g.5112G>C , LRG_255:g.5112G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412236.2:c.-406G>C | ENSP00000412023.1:n.-406G>C | |
| ENST00000674548.1:c.-287G>C | ENSP00000502185.1:n.-287G>C | |
| ENST00000674658.1:c.-440G>C | ENSP00000502334.1:n.-440G>C | |
| ENST00000674706.1:n.34G>C | ||
| ENST00000674817.1:c.-197G>C | ENSP00000502151.1:n.-197G>C | |
| ENST00000674910.1:c.-319G>C | ENSP00000501716.1:n.-319G>C | |
| ENST00000675053.1:c.-245G>C | ENSP00000501646.1:n.-245G>C | |
| ENST00000675194.1:n.84G>C | ||
| ENST00000675298.1:c.-342G>C | ENSP00000501839.1:n.-342G>C | |
| ENST00000675530.1:c.-338G>C | ENSP00000501972.1:n.-338G>C | |
| ENST00000675817.1:c.-342G>C | ENSP00000502422.1:n.-342G>C | |
| ENST00000675872.1:n.55G>C | ||
| ENST00000675959.1:n.56G>C | ||
| ENST00000676369.1:c.-410G>C | ENSP00000502005.1:n.-410G>C | |
| ENST00000676426.1:c.-342G>C | ENSP00000502359.1:n.-342G>C | |
| ENST00000444836.5:c.-197G>C | ENSP00000416338.1:n.-197G>C | |
| NM_001127660.1:c.-197G>C | NP_001121132.1:n.-197G>C | |
| NM_014874.3:c.-342G>C , LRG_255t1:c.-342G>C | NP_055689.1:n.-342G>C | |
| XM_005263543.2:c.-410G>C | XP_005263600.1:n.-410G>C | |
| XM_005263548.2:c.-406G>C | XP_005263605.1:n.-406G>C | |
| XM_005263543.3:c.-410G>C | XP_005263600.1:n.-410G>C | |
| XM_005263548.3:c.-406G>C | XP_005263605.1:n.-406G>C |