Linked Data
ClinVar Variation Id:
1332979
ClinVar RCV Id:
RCV001807620
dbSNP Id:
rs2056202
ExAC:
2:172712480 T / C
gnomAD v2:
2-172712480-T-C
gnomAD v3:
2-171855970-T-C
gnomAD v4:
2-171855970-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.171855970T>C , CM000664.2:g.171855970T>C | GRCh38 |
| NC_000002.11:g.172712480T>C , CM000664.1:g.172712480T>C | GRCh37 |
| NC_000002.10:g.172420726T>C | NCBI36 |
| NG_011781.1:g.43334A>G | |
| NG_011781.2:g.43334A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000422440.7:c.210-21A>G MANE Select | ENSP00000388658.2:n.210-21A>G | |
| ENST00000263812.8:c.210-11462A>G | ENSP00000263812.4:n.210-11462A>G | |
| ENST00000422440.6:c.210-21A>G | ENSP00000388658.2:n.210-21A>G | |
| ENST00000426896.5:c.210-21A>G | ENSP00000413968.1:n.210-21A>G | |
| ENST00000464063.1:n.531-21A>G | ||
| ENST00000472748.5:n.375-21A>G | ||
| ENST00000475360.6:c.198-21A>G | ENSP00000437845.1:n.198-21A>G | |
| ENST00000484227.5:n.408-21A>G | ||
| NM_003705.4:c.210-21A>G | NP_003696.2:n.210-21A>G | |
| NR_047549.1:n.302-11462A>G | ||
| XM_005246923.3:c.159-21A>G | XP_005246980.1:n.159-21A>G | |
| XM_011512069.1:c.210-21A>G | XP_011510371.1:n.210-21A>G | |
| XM_011512070.1:c.-168-21A>G | XP_011510372.1:n.-168-21A>G | |
| XM_011512070.3:c.-168-21A>G | XP_011510372.1:n.-168-21A>G | |
| NM_003705.5:c.210-21A>G MANE Select | NP_003696.2:n.210-21A>G | |
| NR_047549.2:n.240-11462A>G |