Linked Data
ClinVar Variation Id:
335696
dbSNP Id:
rs79339096
ExAC:
2:29446405 G / A
gnomAD v2:
2-29446405-G-A
gnomAD v3:
2-29223539-G-A
gnomAD v4:
2-29223539-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29223539G>A , CM000664.2:g.29223539G>A | GRCh38 |
| NC_000002.11:g.29446405G>A , CM000664.1:g.29446405G>A | GRCh37 |
| NC_000002.10:g.29299909G>A | NCBI36 |
| NG_009445.1:g.703028C>T , LRG_488:g.703028C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3173-11C>T MANE Select | ENSP00000373700.3:n.3173-11C>T | |
| ENST00000431873.6:c.400-11C>T | ||
| ENST00000638605.1:n.50-11C>T | ||
| ENST00000642122.1:c.-43C>T | ENSP00000493203.1:n.-43C>T | |
| ENST00000389048.7:c.3173-11C>T | ENSP00000373700.3:n.3173-11C>T | |
| ENST00000431873.5:c.53-11C>T | ENSP00000414027.2:n.53-11C>T | |
| ENST00000618119.4:c.2042-11C>T | ENSP00000482733.1:n.2042-11C>T | |
| NM_004304.4:c.3173-11C>T | NP_004295.2:n.3173-11C>T | |
| NM_001353765.1:c.-43C>T | NP_001340694.1:n.-43C>T | |
| XM_024452778.1:c.326-11C>T | XP_024308546.1:n.326-11C>T | |
| XM_024452779.1:c.-43C>T | XP_024308547.1:n.-43C>T | |
| XR_001738688.2:n.4029-11C>T | ||
| NM_004304.5:c.3173-11C>T MANE Select | NP_004295.2:n.3173-11C>T | |
| NM_001353765.2:c.-43C>T | NP_001340694.1:n.-43C>T |