Linked Data
ClinVar Variation Id:
2879880
ClinVar RCV Id:
RCV003597779
dbSNP Id:
rs372309250
gnomAD v4:
1-23865482-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23865482G>A , CM000663.2:g.23865482G>A | GRCh38 |
| NC_000001.10:g.24191972G>A , CM000663.1:g.24191972G>A | GRCh37 |
| NC_000001.9:g.24064559G>A | NCBI36 |
| NG_013346.1:g.7888C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374479.4:c.524+9C>T MANE Select | ENSP00000363603.3:n.524+9C>T | |
| ENST00000374479.3:c.524+9C>T | ENSP00000363603.3:n.524+9C>T | |
| NM_000147.4:c.524+9C>T | NP_000138.2:n.524+9C>T | |
| XM_005245821.1:c.149+9C>T | XP_005245878.1:n.149+9C>T | |
| XM_011541167.1:c.-110+9C>T | XP_011539469.1:n.-110+9C>T | |
| XM_005245821.3:c.149+9C>T | XP_005245878.1:n.149+9C>T | |
| XM_011541167.3:c.-110+9C>T | XP_011539469.1:n.-110+9C>T | |
| XM_017000905.2:c.221+9C>T | XP_016856394.1:n.221+9C>T | |
| NM_000147.5:c.524+9C>T MANE Select | NP_000138.2:n.524+9C>T | |
| NR_174379.1:n.702+9C>T | ||
| NR_174380.1:n.751+9C>T | ||
| NR_174381.1:n.590+9C>T | ||
| NR_174382.1:n.987+9C>T |