Linked Data
ClinVar Variation Id:
2769475
ClinVar RCV Id:
RCV003505637
dbSNP Id:
rs1369333964
gnomAD v4:
22-32475138-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32475138G>C , CM000684.2:g.32475138G>C | GRCh38 |
| NC_000022.10:g.32871125G>C , CM000684.1:g.32871125G>C | GRCh37 |
| NC_000022.9:g.31201125G>C | NCBI36 |
| NG_016001.1:g.5419G>C | |
| NG_016001.2:g.5419G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266087.12:c.122+14G>C MANE Select | ENSP00000266087.7:n.122+14G>C | |
| ENST00000266087.11:c.122+14G>C | ENSP00000266087.7:n.122+14G>C | |
| ENST00000420700.5:c.122+14G>C | ENSP00000406155.1:n.122+14G>C | |
| ENST00000425028.5:c.122+14G>C | ENSP00000395823.1:n.122+14G>C | |
| ENST00000492535.1:n.110+14G>C | ||
| NM_012179.3:c.122+14G>C | NP_036311.3:n.122+14G>C | |
| XM_011530106.1:c.-52+14G>C | XP_011528408.1:n.-52+14G>C | |
| XM_024452207.1:c.-69+14G>C | XP_024307975.1:n.-69+14G>C | |
| NM_012179.4:c.122+14G>C MANE Select | NP_036311.3:n.122+14G>C |