Linked Data
ClinVar Variation Id:
282645
dbSNP Id:
rs147537071
ExAC:
2:238262020 C / T
gnomAD v2:
2-238262020-C-T
gnomAD v3:
2-237353377-C-T
gnomAD v4:
2-237353377-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237353377C>T , CM000664.2:g.237353377C>T | GRCh38 |
| NC_000002.11:g.238262020C>T , CM000664.1:g.238262020C>T | GRCh37 |
| NC_000002.10:g.237926759C>T | NCBI36 |
| NG_008676.1:g.65831G>A , LRG_473:g.65831G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353578.9:c.6036G>A | ENSP00000315873.4:p.Pro2012= | |
| ENST00000295550.9:c.6654G>A MANE Select | ENSP00000295550.4:p.Pro2218= | |
| ENST00000295550.8:c.6654G>A | ENSP00000295550.4:p.Pro2218= | |
| ENST00000347401.7:c.4833G>A | ENSP00000315609.4:p.Pro1611= | |
| ENST00000353578.8:c.6036G>A | ENSP00000315873.4:p.Pro2012= | |
| ENST00000409809.5:c.6036G>A | ENSP00000386844.1:p.Pro2012= | |
| ENST00000472056.5:c.4833G>A | ENSP00000418285.1:p.Pro1611= | |
| ENST00000491769.1:n.908G>A | ||
| NM_004369.3:c.6654G>A , LRG_473t1:c.6654G>A | NP_004360.2:p.Pro2218= | |
| NM_057166.4:c.4833G>A | NP_476507.3:p.Pro1611= | |
| NM_057167.3:c.6036G>A | NP_476508.2:p.Pro2012= | |
| XM_005246065.1:c.6054G>A | XP_005246122.1:p.Pro2018= | |
| XM_005246066.1:c.5433G>A | XP_005246123.1:p.Pro1811= | |
| XM_006712253.1:c.6153G>A | XP_006712316.1:p.Pro2051= | |
| XM_011510574.1:c.6651G>A | XP_011508876.1:p.Pro2217= | |
| XM_011510575.1:c.4248G>A | XP_011508877.1:p.Pro1416= | |
| XM_017003304.1:c.4248G>A | XP_016858793.1:p.Pro1416= | |
| XM_024452684.1:c.5433G>A | XP_024308452.1:p.Pro1811= | |
| NM_004369.4:c.6654G>A MANE Select | NP_004360.2:p.Pro2218= | |
| NM_057166.5:c.4833G>A | NP_476507.3:p.Pro1611= | |
| NM_057167.4:c.6036G>A | NP_476508.2:p.Pro2012= |