Linked Data
ClinVar Variation Id:
2937066
ClinVar RCV Id:
RCV003791256
dbSNP Id:
rs1878962134
gnomAD v4:
13-39723454-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.39723454T>C , CM000675.2:g.39723454T>C | GRCh38 |
| NC_000013.10:g.40297591T>C , CM000675.1:g.40297591T>C | GRCh37 |
| NC_000013.9:g.39195591T>C | NCBI36 |
| NG_028352.1:g.72828T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455146.8:c.1692+14T>C MANE Select | ENSP00000397441.2:n.1692+14T>C | |
| ENST00000356576.8:c.*1529+14T>C | ENSP00000348983.4:n.*1529+14T>C | |
| ENST00000416691.5:c.1692+14T>C | ENSP00000403733.1:n.1692+14T>C | |
| ENST00000455146.7:c.1692+14T>C | ENSP00000397441.2:n.1692+14T>C | |
| NM_001145079.1:c.1692+14T>C | NP_001138551.1:n.1692+14T>C | |
| NM_020751.2:c.1692+14T>C | NP_065802.1:n.1692+14T>C | |
| NR_026745.1:n.1857+14T>C | ||
| XM_011535168.1:c.1692+14T>C | XP_011533470.1:n.1692+14T>C | |
| XM_011535169.1:c.1536+14T>C | XP_011533471.1:n.1536+14T>C | |
| XM_011535170.1:c.1536+14T>C | XP_011533472.1:n.1536+14T>C | |
| NM_020751.3:c.1692+14T>C MANE Select | NP_065802.1:n.1692+14T>C | |
| NM_001145079.2:c.1692+14T>C | NP_001138551.1:n.1692+14T>C |