Linked Data
dbSNP Id:
rs772684344
ExAC:
8:95840069 T / G
gnomAD v2:
8-95840069-T-G
gnomAD v4:
8-94827841-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.94827841T>G , CM000670.2:g.94827841T>G | GRCh38 |
| NC_000008.10:g.95840069T>G , CM000670.1:g.95840069T>G | GRCh37 |
| NC_000008.9:g.95909245T>G | NCBI36 |
| NG_047163.1:g.19531T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000523731.6:c.518+48T>G MANE Select | ENSP00000430338.1:n.518+48T>G | |
| ENST00000343161.8:c.518+48T>G | ENSP00000343274.4:n.518+48T>G | |
| ENST00000519053.5:c.191+48T>G | ENSP00000429056.1:n.191+48T>G | |
| ENST00000519457.5:c.377+48T>G | ENSP00000428260.1:n.377+48T>G | |
| ENST00000521860.5:c.480+48T>G | ||
| ENST00000522171.5:c.395+48T>G | ENSP00000429340.1:n.395+48T>G | |
| ENST00000523206.5:c.518+48T>G | ENSP00000429452.1:n.518+48T>G | |
| ENST00000523321.5:n.643+48T>G | ||
| ENST00000523731.5:c.518+48T>G | ENSP00000430338.1:n.518+48T>G | |
| ENST00000524333.5:c.518+48T>G | ENSP00000427840.1:n.518+48T>G | |
| NM_017864.3:c.518+48T>G | NP_060334.2:n.518+48T>G | |
| NR_073444.1:n.660+48T>G | ||
| NR_073445.1:n.660+48T>G | ||
| XM_006716602.2:c.518+48T>G | XP_006716665.1:n.518+48T>G | |
| XM_006716603.2:c.191+48T>G | XP_006716666.1:n.191+48T>G | |
| XM_011517155.1:c.395+48T>G | XP_011515457.1:n.395+48T>G | |
| XM_011517156.1:c.518+48T>G | XP_011515458.1:n.518+48T>G | |
| XM_011517157.1:c.191+48T>G | XP_011515459.1:n.191+48T>G | |
| XM_017013616.1:c.518+48T>G | XP_016869105.1:n.518+48T>G | |
| XM_017013617.1:c.518+48T>G | XP_016869106.1:n.518+48T>G | |
| XM_017013618.1:c.191+48T>G | XP_016869107.1:n.191+48T>G | |
| XM_017013619.1:c.-766+48T>G | XP_016869108.1:n.-766+48T>G | |
| NM_017864.4:c.518+48T>G MANE Select | NP_060334.2:n.518+48T>G | |
| NR_073444.2:n.663+48T>G | ||
| NR_073445.2:n.663+48T>G |