Linked Data
ClinVar Variation Id:
31845
ClinVar RCV Id:
RCV000024539
dbSNP Id:
rs137853867
ExAC:
15:64452302 C / T
gnomAD v2:
15-64452302-C-T
gnomAD v3:
15-64160103-C-T
gnomAD v4:
15-64160103-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.64160103C>T , CM000677.2:g.64160103C>T | GRCh38 |
| NC_000015.9:g.64452302C>T , CM000677.1:g.64452302C>T | GRCh37 |
| NC_000015.8:g.62239355C>T | NCBI36 |
| NG_012979.1:g.8053G>A , LRG_10:g.8053G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000300026.4:c.343+1G>A MANE Select | ENSP00000300026.4:n.343+1G>A | |
| ENST00000561048.2:n.377G>A | ||
| ENST00000680158.1:c.343+1G>A | ENSP00000504873.1:n.343+1G>A | |
| ENST00000680343.1:n.297+1G>A | ||
| ENST00000681397.1:c.343+1G>A | ENSP00000506584.1:n.343+1G>A | |
| ENST00000681658.1:c.238+1G>A | ENSP00000505431.1:n.238+1G>A | |
| ENST00000300026.3:c.343+1G>A | ENSP00000300026.3:n.343+1G>A | |
| ENST00000558492.1:n.249+1G>A | ||
| ENST00000561048.1:n.379G>A | ||
| NM_000942.4:c.343+1G>A , LRG_10t1:c.343+1G>A | NP_000933.1:n.343+1G>A | |
| NM_000942.5:c.343+1G>A MANE Select | NP_000933.1:n.343+1G>A |