Linked Data
dbSNP Id:
rs539908550
ExAC:
11:2188086 C / A
gnomAD v2:
11-2188086-C-A
gnomAD v3:
11-2166856-C-A
gnomAD v4:
11-2166856-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2166856C>A , CM000673.2:g.2166856C>A | GRCh38 |
| NC_000011.9:g.2188086C>A , CM000673.1:g.2188086C>A | GRCh37 |
| NC_000011.8:g.2144662C>A | NCBI36 |
| NG_008128.1:g.9950G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352909.8:c.841+31G>T MANE Select | ENSP00000325951.4:n.841+31G>T | |
| ENST00000324155.8:c.*530+31G>T | ENSP00000325831.3:n.*530+31G>T | |
| ENST00000333684.9:c.696-307G>T | ENSP00000328814.6:n.696-307G>T | |
| ENST00000352909.7:c.841+31G>T | ENSP00000325951.3:n.841+31G>T | |
| ENST00000381168.7:c.*561+31G>T | ENSP00000370560.3:n.*561+31G>T | |
| ENST00000381175.5:c.922+31G>T | ENSP00000370567.1:n.922+31G>T | |
| ENST00000381178.5:c.934+31G>T | ENSP00000370571.1:n.934+31G>T | |
| ENST00000412076.1:c.136-307G>T | ||
| ENST00000416223.5:c.136-88G>T | ||
| ENST00000479437.5:n.390+31G>T | ||
| NM_000360.3:c.841+31G>T | NP_000351.2:n.841+31G>T | |
| NM_199292.2:c.934+31G>T | NP_954986.2:n.934+31G>T | |
| NM_199293.2:c.922+31G>T | NP_954987.2:n.922+31G>T | |
| XM_011520335.1:c.853+31G>T | XP_011518637.1:n.853+31G>T | |
| XM_011520335.2:c.853+31G>T | XP_011518637.1:n.853+31G>T | |
| NM_000360.4:c.841+31G>T MANE Select | NP_000351.2:n.841+31G>T | |
| NM_199292.3:c.934+31G>T | NP_954986.2:n.934+31G>T | |
| NM_199293.3:c.922+31G>T | NP_954987.2:n.922+31G>T |