Linked Data
ClinVar Variation Id:
485074
dbSNP Id:
rs775768862
ExAC:
2:29443572 C / T
gnomAD v2:
2-29443572-C-T
gnomAD v3:
2-29220706-C-T
gnomAD v4:
2-29220706-C-T
COSMIC:
COSM3407813
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29220706C>T , CM000664.2:g.29220706C>T | GRCh38 |
| NC_000002.11:g.29443572C>T , CM000664.1:g.29443572C>T | GRCh37 |
| NC_000002.10:g.29297076C>T | NCBI36 |
| NG_009445.1:g.705861G>A , LRG_488:g.705861G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3645G>A MANE Select | ENSP00000373700.3:p.Pro1215= | |
| ENST00000431873.6:c.872G>A | ||
| ENST00000638605.1:n.522G>A | ||
| ENST00000642122.1:c.441G>A | ENSP00000493203.1:p.Pro147= | |
| ENST00000389048.7:c.3645G>A | ENSP00000373700.3:p.Pro1215= | |
| ENST00000431873.5:c.525G>A | ENSP00000414027.2:p.Pro175= | |
| ENST00000618119.4:c.2514G>A | ENSP00000482733.1:p.Pro838= | |
| NM_004304.4:c.3645G>A | NP_004295.2:p.Pro1215= | |
| NM_001353765.1:c.441G>A | NP_001340694.1:p.Pro147= | |
| XM_024452778.1:c.798G>A | XP_024308546.1:p.Pro266= | |
| XM_024452779.1:c.441G>A | XP_024308547.1:p.Pro147= | |
| NM_004304.5:c.3645G>A MANE Select | NP_004295.2:p.Pro1215= | |
| NM_001353765.2:c.441G>A | NP_001340694.1:p.Pro147= |