Linked Data
ClinVar Variation Id:
2992669
ClinVar RCV Id:
RCV003857780
dbSNP Id:
rs369868359
ExAC:
1:213056693 A / G
gnomAD v2:
1-213056693-A-G
gnomAD v3:
1-212883351-A-G
gnomAD v4:
1-212883351-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.212883351A>G , CM000663.2:g.212883351A>G | GRCh38 |
| NC_000001.10:g.213056693A>G , CM000663.1:g.213056693A>G | GRCh37 |
| NC_000001.9:g.211123316A>G | NCBI36 |
| NG_028131.1:g.30097A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366971.9:c.1025-20A>G MANE Select | ENSP00000355938.4:n.1025-20A>G | |
| ENST00000366971.8:c.1025-20A>G | ENSP00000355938.4:n.1025-20A>G | |
| ENST00000419102.1:c.421-20A>G | ||
| ENST00000474693.1:n.250-20A>G | ||
| NM_014053.3:c.1025-20A>G | NP_054772.1:n.1025-20A>G | |
| XM_011509446.1:c.1025-20A>G | XP_011507748.1:n.1025-20A>G | |
| XR_247024.1:n.1199-20A>G | ||
| XR_426771.1:n.1326-20A>G | ||
| XM_011509446.3:c.1025-20A>G | XP_011507748.1:n.1025-20A>G | |
| XR_247024.3:n.1199-20A>G | ||
| NM_014053.4:c.1025-20A>G MANE Select | NP_054772.1:n.1025-20A>G |