Linked Data
ClinVar Variation Id:
382987
ClinVar RCV Id:
RCV000433961
dbSNP Id:
rs1057521498
gnomAD v4:
5-79051354-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.79051354T>C , CM000667.2:g.79051354T>C | GRCh38 |
| NC_000005.9:g.78347177T>C , CM000667.1:g.78347177T>C | GRCh37 |
| NC_000005.8:g.78382933T>C | NCBI36 |
| NG_012164.1:g.23273A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255189.8:c.678A>G MANE Select | ENSP00000255189.3:p.Ser226= | |
| ENST00000255189.7:c.678A>G | ENSP00000255189.3:p.Ser226= | |
| ENST00000517853.5:c.276+12259A>G | ENSP00000428995.1:n.276+12259A>G | |
| ENST00000518477.5:c.277-6802A>G | ENSP00000427834.1:n.277-6802A>G | |
| ENST00000521052.5:c.*43+4456A>G | ENSP00000430133.1:n.*43+4456A>G | |
| ENST00000523732.1:c.195A>G | ENSP00000430972.1:p.Ser65= | |
| ENST00000524206.1:c.*346A>G | ENSP00000428092.1:n.*346A>G | |
| NM_013391.3:c.678A>G MANE Select | NP_037523.2:p.Ser226= | |
| NR_104002.1:n.331-6802A>G | ||
| NR_104003.1:n.330+12259A>G | ||
| XM_006714597.1:c.678A>G | XP_006714660.1:p.Ser226= | |
| XM_011543354.1:c.678A>G | XP_011541656.1:p.Ser226= | |
| XM_011543355.1:c.678A>G | XP_011541657.1:p.Ser226= | |
| XM_006714597.2:c.678A>G | XP_006714660.1:p.Ser226= | |
| XM_011543355.2:c.678A>G | XP_011541657.1:p.Ser226= | |
| NR_104002.2:n.331-6802A>G | ||
| NR_104003.2:n.330+12259A>G | ||
| NR_104002.3:n.331-6802A>G | ||
| NR_104003.3:n.330+12259A>G |