Linked Data
ClinVar Variation Id:
2889856
ClinVar RCV Id:
RCV003619537
dbSNP Id:
rs1836532652
gnomAD v3:
9-133354961-G-C
gnomAD v4:
9-133354961-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133354961G>C , CM000671.2:g.133354961G>C | GRCh38 |
| NC_000009.10:g.135211637G>C | NCBI36 |
| NG_008477.1:g.6546C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371974.8:c.107-4C>G MANE Select | ENSP00000361042.3:n.107-4C>G | |
| ENST00000371974.7:c.107-4C>G | ENSP00000361042.3:n.107-4C>G | |
| ENST00000437995.1:n.53-4C>G | ||
| ENST00000615505.4:c.-221-4C>G | ENSP00000482067.1:n.-221-4C>G | |
| NM_001280787.1:c.-221-4C>G | NP_001267716.1:n.-221-4C>G | |
| NM_003172.3:c.107-4C>G | NP_003163.1:n.107-4C>G | |
| XM_011518942.1:c.-221-4C>G | XP_011517244.1:n.-221-4C>G | |
| NM_003172.4:c.107-4C>G MANE Select | NP_003163.1:n.107-4C>G |