Linked Data
dbSNP Id:
rs78725471
gnomAD v2:
11-7367066-A-G
gnomAD v3:
11-7345835-A-G
gnomAD v4:
11-7345835-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.7345835A>G , CM000673.2:g.7345835A>G | GRCh38 |
| NC_000011.9:g.7367066A>G , CM000673.1:g.7367066A>G | GRCh37 |
| NC_000011.8:g.7323642A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318881.11:c.1044+31894A>G MANE Select | ENSP00000324419.6:n.1044+31894A>G | |
| ENST00000318881.10:c.1044+31894A>G | ENSP00000324419.6:n.1044+31894A>G | |
| ENST00000524820.6:c.*141+31498A>G | ENSP00000432141.2:n.*141+31498A>G | |
| ENST00000532592.1:c.497+42445A>G | ENSP00000434558.1:n.497+42445A>G | |
| NM_175733.3:c.1044+31894A>G | NP_783860.1:n.1044+31894A>G | |
| XM_005252795.2:c.1044+31894A>G | XP_005252852.1:n.1044+31894A>G | |
| XM_011519900.1:c.1044+31894A>G | XP_011518202.1:n.1044+31894A>G | |
| XM_011519901.1:c.1044+31894A>G | XP_011518203.1:n.1044+31894A>G | |
| XM_011519902.1:c.948+31894A>G | XP_011518204.1:n.948+31894A>G | |
| XM_011519903.1:c.1044+31894A>G | XP_011518205.1:n.1044+31894A>G | |
| XM_011519904.1:c.1044+31894A>G | XP_011518206.1:n.1044+31894A>G | |
| XM_011519905.1:c.1044+31894A>G | XP_011518207.1:n.1044+31894A>G | |
| XM_011519900.2:c.1044+31894A>G | XP_011518202.1:n.1044+31894A>G | |
| XM_011519901.2:c.1044+31894A>G | XP_011518203.1:n.1044+31894A>G | |
| XM_011519902.2:c.948+31894A>G | XP_011518204.1:n.948+31894A>G | |
| XM_011519904.2:c.1044+31894A>G | XP_011518206.1:n.1044+31894A>G | |
| XR_001747772.1:n.1259+31894A>G | ||
| XR_001747773.1:n.1259+31894A>G | ||
| NM_175733.4:c.1044+31894A>G MANE Select | NP_783860.1:n.1044+31894A>G |