Linked Data
ClinVar Variation Id:
391213
ClinVar RCV Id:
RCV000436679
dbSNP Id:
rs752997524
ExAC:
2:207632208 G / A
gnomAD v2:
2-207632208-G-A
gnomAD v3:
2-206767484-G-A
gnomAD v4:
2-206767484-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.206767484G>A , CM000664.2:g.206767484G>A | GRCh38 |
| NC_000002.11:g.207632208G>A , CM000664.1:g.207632208G>A | GRCh37 |
| NC_000002.10:g.207340453G>A | NCBI36 |
| NG_008984.1:g.7097G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402774.8:c.777+14G>A MANE Select | ENSP00000385990.3:n.777+14G>A | |
| ENST00000236980.10:c.777+14G>A | ENSP00000236980.6:n.777+14G>A | |
| ENST00000402774.7:c.777+14G>A | ENSP00000385990.3:n.777+14G>A | |
| ENST00000403094.3:c.777+14G>A | ENSP00000384929.3:n.777+14G>A | |
| ENST00000487777.5:n.835+14G>A | ||
| NM_001136193.1:c.777+14G>A | NP_001129665.1:n.777+14G>A | |
| NM_001136194.1:c.777+14G>A | NP_001129666.1:n.777+14G>A | |
| NM_014929.3:c.777+14G>A | NP_055744.2:n.777+14G>A | |
| NM_001136193.2:c.777+14G>A MANE Select | NP_001129665.1:n.777+14G>A | |
| NM_001136194.2:c.777+14G>A | NP_001129666.1:n.777+14G>A | |
| NM_014929.4:c.777+14G>A | NP_055744.2:n.777+14G>A |