Linked Data
dbSNP Id:
rs372309250
ExAC:
1:24191972 G / C
gnomAD v2:
1-24191972-G-C
gnomAD v3:
1-23865482-G-C
gnomAD v4:
1-23865482-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23865482G>C , CM000663.2:g.23865482G>C | GRCh38 |
| NC_000001.10:g.24191972G>C , CM000663.1:g.24191972G>C | GRCh37 |
| NC_000001.9:g.24064559G>C | NCBI36 |
| NG_013346.1:g.7888C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374479.4:c.524+9C>G MANE Select | ENSP00000363603.3:n.524+9C>G | |
| ENST00000374479.3:c.524+9C>G | ENSP00000363603.3:n.524+9C>G | |
| NM_000147.4:c.524+9C>G | NP_000138.2:n.524+9C>G | |
| XM_005245821.1:c.149+9C>G | XP_005245878.1:n.149+9C>G | |
| XM_011541167.1:c.-110+9C>G | XP_011539469.1:n.-110+9C>G | |
| XM_005245821.3:c.149+9C>G | XP_005245878.1:n.149+9C>G | |
| XM_011541167.3:c.-110+9C>G | XP_011539469.1:n.-110+9C>G | |
| XM_017000905.2:c.221+9C>G | XP_016856394.1:n.221+9C>G | |
| NM_000147.5:c.524+9C>G MANE Select | NP_000138.2:n.524+9C>G | |
| NR_174379.1:n.702+9C>G | ||
| NR_174380.1:n.751+9C>G | ||
| NR_174381.1:n.590+9C>G | ||
| NR_174382.1:n.987+9C>G |