Linked Data
ClinVar Variation Id:
2196106
ClinVar RCV Id:
RCV002650996
dbSNP Id:
rs779670941
ExAC:
2:238245007 C / T
gnomAD v2:
2-238245007-C-T
gnomAD v3:
2-237336364-C-T
gnomAD v4:
2-237336364-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237336364C>T , CM000664.2:g.237336364C>T | GRCh38 |
| NC_000002.11:g.238245007C>T , CM000664.1:g.238245007C>T | GRCh37 |
| NC_000002.10:g.237909746C>T | NCBI36 |
| NG_008676.1:g.82844G>A , LRG_473:g.82844G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.1381G>A | ||
| ENST00000353578.9:c.8118G>A | ENSP00000315873.4:p.Pro2706= | |
| ENST00000682957.1:c.863G>A | ||
| ENST00000684508.1:n.1003G>A | ||
| ENST00000295550.9:c.8736G>A MANE Select | ENSP00000295550.4:p.Pro2912= | |
| ENST00000295550.8:c.8736G>A | ENSP00000295550.4:p.Pro2912= | |
| ENST00000347401.7:c.6912G>A | ENSP00000315609.4:p.Pro2304= | |
| ENST00000353578.8:c.8118G>A | ENSP00000315873.4:p.Pro2706= | |
| ENST00000409809.5:c.8118G>A | ENSP00000386844.1:p.Pro2706= | |
| ENST00000472056.5:c.6915G>A | ENSP00000418285.1:p.Pro2305= | |
| ENST00000491769.1:n.5178G>A | ||
| NM_004369.3:c.8736G>A , LRG_473t1:c.8736G>A | NP_004360.2:p.Pro2912= | |
| NM_057166.4:c.6915G>A | NP_476507.3:p.Pro2305= | |
| NM_057167.3:c.8118G>A | NP_476508.2:p.Pro2706= | |
| XM_005246065.1:c.8136G>A | XP_005246122.1:p.Pro2712= | |
| XM_005246066.1:c.7515G>A | XP_005246123.1:p.Pro2505= | |
| XM_006712253.1:c.8235G>A | XP_006712316.1:p.Pro2745= | |
| XM_011510574.1:c.8733G>A | XP_011508876.1:p.Pro2911= | |
| XM_011510575.1:c.6330G>A | XP_011508877.1:p.Pro2110= | |
| XM_017003304.1:c.6330G>A | XP_016858793.1:p.Pro2110= | |
| XM_024452684.1:c.7515G>A | XP_024308452.1:p.Pro2505= | |
| NM_004369.4:c.8736G>A MANE Select | NP_004360.2:p.Pro2912= | |
| NM_057166.5:c.6915G>A | NP_476507.3:p.Pro2305= | |
| NM_057167.4:c.8118G>A | NP_476508.2:p.Pro2706= |