Linked Data
ClinVar Variation Id:
1334936
ClinVar RCV Id:
RCV001816036
dbSNP Id:
rs2240736
ExAC:
17:59485393 C / T
gnomAD v2:
17-59485393-C-T
gnomAD v3:
17-61408032-C-T
gnomAD v4:
17-61408032-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61408032C>T , CM000679.2:g.61408032C>T | GRCh38 |
| NC_000017.10:g.59485393C>T , CM000679.1:g.59485393C>T | GRCh37 |
| NC_000017.9:g.56840175C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000240328.4:c.1687-22C>T MANE Select | ENSP00000240328.3:n.1687-22C>T | |
| ENST00000240328.3:c.1687-22C>T | ENSP00000240328.3:n.1687-22C>T | |
| ENST00000419047.5:c.*1224-22C>T | ENSP00000404781.1:n.*1224-22C>T | |
| ENST00000477081.1:n.4126C>T | ||
| NM_005994.3:c.1687-22C>T | NP_005985.3:n.1687-22C>T | |
| XM_011525158.1:c.1687-22C>T | XP_011523460.1:n.1687-22C>T | |
| XM_011525159.1:c.1009-22C>T | XP_011523461.1:n.1009-22C>T | |
| NM_005994.4:c.1687-22C>T MANE Select | NP_005985.3:n.1687-22C>T |