Linked Data
ClinVar Variation Id:
1234219
ClinVar RCV Id:
RCV001620455
dbSNP Id:
rs2260863
gnomAD v2:
1-226019774-G-C
gnomAD v3:
1-225832073-G-C
gnomAD v4:
1-225832073-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.225832073G>C , CM000663.2:g.225832073G>C | GRCh38 |
| NC_000001.10:g.226019774G>C , CM000663.1:g.226019774G>C | GRCh37 |
| NC_000001.9:g.224086397G>C | NCBI36 |
| NG_009776.1:g.26978G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272167.10:c.364+114G>C MANE Select | ENSP00000272167.5:n.364+114G>C | |
| ENST00000272167.9:c.364+114G>C | ENSP00000272167.5:n.364+114G>C | |
| ENST00000366837.5:c.364+114G>C | ENSP00000355802.4:n.364+114G>C | |
| ENST00000445856.5:c.364+114G>C | ENSP00000398491.1:n.364+114G>C | |
| ENST00000448202.5:c.364+114G>C | ENSP00000408469.1:n.364+114G>C | |
| ENST00000467015.1:n.365G>C | ||
| ENST00000614058.4:c.364+114G>C | ENSP00000480004.1:n.364+114G>C | |
| NM_000120.3:c.364+114G>C | NP_000111.1:n.364+114G>C | |
| NM_001136018.3:c.364+114G>C | NP_001129490.1:n.364+114G>C | |
| NM_001291163.1:c.364+114G>C | NP_001278092.1:n.364+114G>C | |
| NM_000120.4:c.364+114G>C | NP_000111.1:n.364+114G>C | |
| NM_001136018.4:c.364+114G>C MANE Select | NP_001129490.1:n.364+114G>C | |
| NM_001291163.2:c.364+114G>C | NP_001278092.1:n.364+114G>C | |
| NM_001378426.1:c.364+114G>C | NP_001365355.1:n.364+114G>C | |
| NM_001378427.1:c.364+114G>C | NP_001365356.1:n.364+114G>C | |
| NM_001378428.1:c.337+114G>C | NP_001365357.1:n.337+114G>C | |
| NM_001378429.1:c.364+114G>C | NP_001365358.1:n.364+114G>C | |
| NM_001378430.1:c.364+114G>C | NP_001365359.1:n.364+114G>C | |
| NM_001378431.1:c.364+114G>C | NP_001365360.1:n.364+114G>C | |
| NM_001378432.1:c.364+114G>C | NP_001365361.1:n.364+114G>C | |
| NR_165624.1:n.369+160G>C | ||
| NR_165625.1:n.415+114G>C | ||
| NR_165626.1:n.861+114G>C | ||
| NR_165627.1:n.560+114G>C |