Linked Data
ClinVar Variation Id:
330620
ClinVar RCV Id:
RCV000308079
dbSNP Id:
rs886054721
gnomAD v2:
2-10183813-G-A
gnomAD v3:
2-10043686-G-A
gnomAD v4:
2-10043686-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.10043686G>A , CM000664.2:g.10043686G>A | GRCh38 |
| NC_000002.11:g.10183813G>A , CM000664.1:g.10183813G>A | GRCh37 |
| NC_000002.10:g.10101264G>A | NCBI36 |
| NG_017199.1:g.5132G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305883.6:c.-31G>A MANE Select | ENSP00000307023.1:n.-31G>A | |
| ENST00000305883.5:c.-31G>A | ENSP00000307023.1:n.-31G>A | |
| ENST00000401510.5:c.-10+615G>A | ENSP00000386058.1:n.-10+615G>A | |
| NM_003597.4:c.-31G>A | NP_003588.1:n.-31G>A | |
| XM_005246179.3:c.-10+615G>A | XP_005246236.1:n.-10+615G>A | |
| NM_003597.5:c.-31G>A MANE Select | NP_003588.1:n.-31G>A |