Linked Data
ClinVar Variation Id:
56375
ClinVar RCV Id:
RCV000049788
dbSNP Id:
rs386833822
gnomAD v4:
14-22779925-C-G
PubMed:
PMID:18716612
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.22779925C>G , CM000676.2:g.22779925C>G | GRCh38 |
| NC_000014.8:g.23249134C>G , CM000676.1:g.23249134C>G | GRCh37 |
| NC_000014.7:g.22318974C>G | NCBI36 |
| NG_012851.2:g.54896G>C , LRG_695:g.54896G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555911.2:c.625+1G>C | ENSP00000452551.2:n.625+1G>C | |
| ENST00000698939.1:c.625+1G>C | ENSP00000514047.1:n.625+1G>C | |
| ENST00000397532.9:c.625+1G>C | ENSP00000380666.4:n.625+1G>C | |
| ENST00000674313.1:c.625+1G>C MANE Select | ENSP00000501493.1:n.625+1G>C | |
| ENST00000285850.11:c.625+1G>C | ENSP00000285850.7:n.625+1G>C | |
| ENST00000397528.8:c.625+1G>C | ENSP00000380662.4:n.625+1G>C | |
| ENST00000397529.6:c.625+1G>C | ENSP00000380663.2:n.625+1G>C | |
| ENST00000397532.7:c.625+1G>C | ENSP00000380666.3:n.625+1G>C | |
| ENST00000554061.5:n.296+1G>C | ||
| ENST00000554517.5:c.-174+1G>C | ENSP00000452083.1:n.-174+1G>C | |
| ENST00000555702.5:c.625+1G>C | ENSP00000451881.1:n.625+1G>C | |
| ENST00000556287.5:c.625+1G>C | ENSP00000450715.1:n.625+1G>C | |
| NM_001126105.2:c.625+1G>C , LRG_695t1:c.625+1G>C | NP_001119577.1:n.625+1G>C | |
| NM_001126106.2:c.625+1G>C , LRG_695t2:c.625+1G>C | NP_001119578.1:n.625+1G>C | |
| NR_040448.1:n.1240+1G>C | ||
| XM_006720302.1:c.625+1G>C | XP_006720365.1:n.625+1G>C | |
| XM_011537298.1:c.625+1G>C | XP_011535600.1:n.625+1G>C | |
| XM_011537299.1:c.625+1G>C | XP_011535601.1:n.625+1G>C | |
| XM_006720302.2:c.625+1G>C | XP_006720365.1:n.625+1G>C | |
| XM_011537298.3:c.625+1G>C | XP_011535600.1:n.625+1G>C | |
| NM_001126105.3:c.625+1G>C | NP_001119577.1:n.625+1G>C | |
| NM_001126106.4:c.625+1G>C | NP_001119578.1:n.625+1G>C | |
| NM_003982.4:c.625+1G>C MANE Select | NP_003973.3:n.625+1G>C |