Linked Data
ClinVar Variation Id:
2127121
ClinVar RCV Id:
RCV003052003
dbSNP Id:
rs1037693123
gnomAD v4:
1-63648511-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.63648511C>G , CM000663.2:g.63648511C>G | GRCh38 |
| NC_000001.10:g.64114182C>G , CM000663.1:g.64114182C>G | GRCh37 |
| NC_000001.9:g.63886770C>G | NCBI36 |
| NG_016966.1:g.60236C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371084.8:c.1145-6C>G MANE Select | ENSP00000360125.3:n.1145-6C>G | |
| ENST00000650546.1:c.1145-6C>G | ENSP00000497812.1:n.1145-6C>G | |
| ENST00000371083.4:c.1199-6C>G | ENSP00000360124.4:n.1199-6C>G | |
| ENST00000371084.7:c.1145-6C>G | ENSP00000360125.3:n.1145-6C>G | |
| ENST00000540265.5:c.554-6C>G | ENSP00000443449.1:n.554-6C>G | |
| NM_001172818.1:c.1199-6C>G | NP_001166289.1:n.1199-6C>G | |
| NM_001172819.1:c.554-6C>G | NP_001166290.1:n.554-6C>G | |
| NM_002633.2:c.1145-6C>G | NP_002624.2:n.1145-6C>G | |
| NM_002633.3:c.1145-6C>G MANE Select | NP_002624.2:n.1145-6C>G | |
| NM_001172819.2:c.554-6C>G | NP_001166290.1:n.554-6C>G |