Linked Data
ClinVar Variation Id:
667809
ClinVar RCV Id:
RCV000826581
dbSNP Id:
rs8007661
gnomAD v2:
14-92459958-C-T
gnomAD v3:
14-91993614-C-T
gnomAD v4:
14-91993614-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91993614C>T , CM000676.2:g.91993614C>T | GRCh38 |
| NC_000014.8:g.92459958C>T , CM000676.1:g.92459958C>T | GRCh37 |
| NC_000014.7:g.91529711C>T | NCBI36 |
| NG_016970.1:g.51446G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000267622.8:c.5160+195G>A MANE Select | ENSP00000267622.4:n.5160+195G>A | |
| ENST00000554357.5:c.4306+195G>A | ||
| ENST00000557017.1:c.408+195G>A | ENSP00000451607.1:n.408+195G>A | |
| NM_004239.3:c.5160+195G>A | NP_004230.2:n.5160+195G>A | |
| XM_005268214.2:c.3834+195G>A | XP_005268271.1:n.3834+195G>A | |
| XM_005268215.2:c.2130+195G>A | XP_005268272.1:n.2130+195G>A | |
| XM_006720321.2:c.5157+195G>A | XP_006720384.1:n.5157+195G>A | |
| XR_943560.1:n.5615+195G>A | ||
| NM_001321851.1:c.5157+195G>A | NP_001308780.1:n.5157+195G>A | |
| NM_004239.4:c.5160+195G>A MANE Select | NP_004230.2:n.5160+195G>A | |
| XM_017021787.2:c.4455+195G>A | XP_016877276.1:n.4455+195G>A | |
| XM_017021788.2:c.3834+195G>A | XP_016877277.1:n.3834+195G>A | |
| XR_001750598.2:n.5445+195G>A | ||
| XR_943560.2:n.5609+195G>A |