Linked Data
ClinVar Variation Id:
1168680
ClinVar RCV Id:
RCV001519111
dbSNP Id:
rs141222148
ExAC:
2:223489422 T / C
gnomAD v2:
2-223489422-T-C
gnomAD v3:
2-222624703-T-C
gnomAD v4:
2-222624703-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.222624703T>C , CM000664.2:g.222624703T>C | GRCh38 |
| NC_000002.11:g.223489422T>C , CM000664.1:g.223489422T>C | GRCh37 |
| NC_000002.10:g.223197666T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281828.8:c.962+11A>G MANE Select | ENSP00000281828.6:n.962+11A>G | |
| ENST00000281828.6:c.962+11A>G | ENSP00000281828.6:n.962+11A>G | |
| NM_005687.4:c.962+11A>G | NP_005678.3:n.962+11A>G | |
| NR_130154.1:n.1440+11A>G | ||
| XM_006712169.1:c.665+11A>G | XP_006712232.1:n.665+11A>G | |
| XM_006712170.1:c.665+11A>G | XP_006712233.1:n.665+11A>G | |
| XM_011510466.1:c.665+11A>G | XP_011508768.1:n.665+11A>G | |
| XM_006712169.2:c.665+11A>G | XP_006712232.1:n.665+11A>G | |
| XM_011510466.2:c.665+11A>G | XP_011508768.1:n.665+11A>G | |
| XM_017003110.2:c.665+11A>G | XP_016858599.1:n.665+11A>G | |
| XM_024452492.1:c.665+11A>G | XP_024308260.1:n.665+11A>G | |
| NM_005687.5:c.962+11A>G MANE Select | NP_005678.3:n.962+11A>G | |
| NR_130154.2:n.1177+11A>G |