Linked Data
ClinVar Variation Id:
677843
ClinVar RCV Id:
RCV000837406
dbSNP Id:
rs72852030
gnomAD v2:
2-29445113-C-T
gnomAD v3:
2-29222247-C-T
gnomAD v4:
2-29222247-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29222247C>T , CM000664.2:g.29222247C>T | GRCh38 |
| NC_000002.11:g.29445113C>T , CM000664.1:g.29445113C>T | GRCh37 |
| NC_000002.10:g.29298617C>T | NCBI36 |
| NG_009445.1:g.704320G>A , LRG_488:g.704320G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3515+97G>A MANE Select | ENSP00000373700.3:n.3515+97G>A | |
| ENST00000431873.6:c.742+97G>A | ||
| ENST00000638605.1:n.392+97G>A | ||
| ENST00000642122.1:c.311+97G>A | ENSP00000493203.1:n.311+97G>A | |
| ENST00000389048.7:c.3515+97G>A | ENSP00000373700.3:n.3515+97G>A | |
| ENST00000431873.5:c.395+97G>A | ENSP00000414027.2:n.395+97G>A | |
| ENST00000453137.1:c.209+97G>A | ENSP00000387488.1:n.209+97G>A | |
| ENST00000618119.4:c.2384+97G>A | ENSP00000482733.1:n.2384+97G>A | |
| NM_004304.4:c.3515+97G>A | NP_004295.2:n.3515+97G>A | |
| NM_001353765.1:c.311+97G>A | NP_001340694.1:n.311+97G>A | |
| XM_024452778.1:c.668+97G>A | XP_024308546.1:n.668+97G>A | |
| XM_024452779.1:c.311+97G>A | XP_024308547.1:n.311+97G>A | |
| NM_004304.5:c.3515+97G>A MANE Select | NP_004295.2:n.3515+97G>A | |
| NM_001353765.2:c.311+97G>A | NP_001340694.1:n.311+97G>A |