Linked Data
ClinVar Variation Id:
1948366
ClinVar RCV Id:
RCV002685734
dbSNP Id:
rs770529608
gnomAD v2:
1-94528130-C-T
gnomAD v4:
1-94062574-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94062574C>T , CM000663.2:g.94062574C>T | GRCh38 |
| NC_000001.10:g.94528130C>T , CM000663.1:g.94528130C>T | GRCh37 |
| NC_000001.9:g.94300718C>T | NCBI36 |
| NG_009073.1:g.63576G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.1937+3G>A MANE Select | ENSP00000359245.3:n.1937+3G>A | |
| ENST00000649773.1:c.1937+3G>A | ENSP00000496882.1:n.1937+3G>A | |
| ENST00000370225.3:c.1937+3G>A | ENSP00000359245.3:n.1937+3G>A | |
| ENST00000536513.5:c.-65+600G>A | ENSP00000439707.2:n.-65+600G>A | |
| NM_000350.2:c.1937+3G>A | NP_000341.2:n.1937+3G>A | |
| NM_000350.3:c.1937+3G>A MANE Select | NP_000341.2:n.1937+3G>A |