Linked Data
ClinVar Variation Id:
1241955
ClinVar RCV Id:
RCV001647805
dbSNP Id:
rs3755157
gnomAD v2:
2-169792171-C-T
gnomAD v3:
2-168935661-C-T
gnomAD v4:
2-168935661-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.168935661C>T , CM000664.2:g.168935661C>T | GRCh38 |
| NC_000002.11:g.169792171C>T , CM000664.1:g.169792171C>T | GRCh37 |
| NC_000002.10:g.169500417C>T | NCBI36 |
| NG_007374.1:g.100663G>A | |
| NG_007374.2:g.100736G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000649448.1:c.1132-236G>A | ENSP00000497165.1:n.1132-236G>A | |
| ENST00000650372.1:c.2815-236G>A MANE Select | ENSP00000497931.1:n.2815-236G>A | |
| ENST00000263817.6:c.2815-236G>A | ENSP00000263817.6:n.2815-236G>A | |
| ENST00000439188.1:c.1504-236G>A | ENSP00000416058.1:n.1504-236G>A | |
| NM_003742.2:c.2815-236G>A | NP_003733.2:n.2815-236G>A | |
| XM_006712817.2:c.2857-236G>A | XP_006712880.1:n.2857-236G>A | |
| XM_011512077.1:c.2917-236G>A | XP_011510379.1:n.2917-236G>A | |
| XM_011512078.1:c.2917-236G>A | XP_011510380.1:n.2917-236G>A | |
| XM_011512079.1:c.2917-236G>A | XP_011510381.1:n.2917-236G>A | |
| XM_011512080.1:c.*26-236G>A | XP_011510382.1:n.*26-236G>A | |
| XM_011512081.1:c.1141-236G>A | XP_011510383.1:n.1141-236G>A | |
| NM_003742.4:c.2815-236G>A MANE Select | NP_003733.2:n.2815-236G>A | |
| XM_006712817.3:c.2857-236G>A | XP_006712880.1:n.2857-236G>A | |
| XM_011512077.2:c.2917-236G>A | XP_011510379.1:n.2917-236G>A | |
| XM_011512078.2:c.2917-236G>A | XP_011510380.1:n.2917-236G>A | |
| XM_011512080.2:c.*26-236G>A | XP_011510382.1:n.*26-236G>A | |
| XM_011512081.2:c.1141-236G>A | XP_011510383.1:n.1141-236G>A | |
| XM_017005165.1:c.2917-236G>A | XP_016860654.1:n.2917-236G>A | |
| XM_017005166.1:c.2146-236G>A | XP_016860655.1:n.2146-236G>A | |
| XM_017005167.1:c.1600-236G>A | XP_016860656.1:n.1600-236G>A |