Linked Data
ClinVar Variation Id:
2682840
ClinVar RCV Id:
RCV003481707
dbSNP Id:
rs747381138
ExAC:
3:98304280 C / A
gnomAD v2:
3-98304280-C-A
gnomAD v3:
3-98585436-C-A
gnomAD v4:
3-98585436-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.98585436C>A , CM000665.2:g.98585436C>A | GRCh38 |
| NC_000003.11:g.98304280C>A , CM000665.1:g.98304280C>A | GRCh37 |
| NC_000003.10:g.99786970C>A | NCBI36 |
| NG_015994.1:g.13176G>T | |
| NG_015994.2:g.13176G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000512905.6:c.58+5G>T | ||
| ENST00000647941.2:c.1172+5G>T MANE Select | ENSP00000497326.1:n.1172+5G>T | |
| ENST00000264193.2:c.1172+5G>T | ENSP00000264193.2:n.1172+5G>T | |
| ENST00000510489.1:n.422+5G>T | ||
| ENST00000512905.5:c.58+5G>T | ||
| NM_000097.5:c.1172+5G>T | NP_000088.3:n.1172+5G>T | |
| XM_005247125.3:c.1172+5G>T | XP_005247182.1:n.1172+5G>T | |
| NM_000097.7:c.1172+5G>T MANE Select | NP_000088.3:n.1172+5G>T | |
| XM_005247125.4:c.1172+5G>T | XP_005247182.1:n.1172+5G>T | |
| XR_001740025.2:n.1343+5G>T | ||
| XR_001740026.1:n.1907+5G>T | ||
| XR_001740027.1:n.1447+5G>T | ||
| XR_001740028.1:n.1413+5G>T |