Linked Data
ClinVar Variation Id:
2771364
ClinVar RCV Id:
RCV003499455
dbSNP Id:
rs146603886
ExAC:
2:71357309 C / A
gnomAD v2:
2-71357309-C-A
gnomAD v3:
2-71130179-C-A
gnomAD v4:
2-71130179-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71130179C>A , CM000664.2:g.71130179C>A | GRCh38 |
| NC_000002.11:g.71357309C>A , CM000664.1:g.71357309C>A | GRCh37 |
| NC_000002.10:g.71210817C>A | NCBI36 |
| NG_008977.1:g.5086G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244217.6:c.40+1G>T MANE Select | ENSP00000244217.5:n.40+1G>T | |
| ENST00000244217.5:c.40+1G>T | ENSP00000244217.5:n.40+1G>T | |
| ENST00000486135.1:c.-347+1G>T | ENSP00000441569.1:n.-347+1G>T | |
| ENST00000494660.6:c.-708G>T | ENSP00000437361.1:n.-708G>T | |
| NM_032601.3:c.40+1G>T | NP_115990.3:n.40+1G>T | |
| XM_005264613.2:c.40+1G>T | XP_005264670.1:n.40+1G>T | |
| XR_939729.1:n.109+1G>T | ||
| XR_939729.2:n.109+1G>T | ||
| NM_032601.4:c.40+1G>T MANE Select | NP_115990.3:n.40+1G>T |