Linked Data
ClinVar Variation Id:
223843
dbSNP Id:
rs13447742
gnomAD v2:
11-94153400-C-A
gnomAD v3:
11-94420234-C-A
gnomAD v4:
11-94420234-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.94420234C>A , CM000673.2:g.94420234C>A | GRCh38 |
| NC_000011.9:g.94153400C>A , CM000673.1:g.94153400C>A | GRCh37 |
| NC_000011.8:g.93793048C>A | NCBI36 |
| NG_007261.1:g.78641G>T , LRG_85:g.78641G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323929.8:c.2071-53G>T MANE Select | ENSP00000325863.4:n.2071-53G>T | |
| ENST00000323929.7:c.2071-53G>T | ENSP00000325863.3:n.2071-53G>T | |
| ENST00000323977.7:c.1987-53G>T | ENSP00000326094.3:n.1987-53G>T | |
| ENST00000393241.8:c.2068-53G>T | ENSP00000376933.4:n.2068-53G>T | |
| ENST00000407439.7:c.2080-53G>T | ENSP00000385614.3:n.2080-53G>T | |
| NM_005590.3:c.1987-53G>T | NP_005581.2:n.1987-53G>T | |
| NM_005591.3:c.2071-53G>T , LRG_85t1:c.2071-53G>T | NP_005582.1:n.2071-53G>T | |
| XM_005274008.2:c.1603-53G>T | XP_005274065.1:n.1603-53G>T | |
| XM_006718842.2:c.2068-53G>T | XP_006718905.1:n.2068-53G>T | |
| XM_011542837.1:c.2071-53G>T | XP_011541139.1:n.2071-53G>T | |
| XR_947828.1:n.2367-53G>T | ||
| NM_001330347.1:c.2068-53G>T | NP_001317276.1:n.2068-53G>T | |
| XM_005274008.3:c.1603-53G>T | XP_005274065.1:n.1603-53G>T | |
| XM_006718842.3:c.2068-53G>T | XP_006718905.1:n.2068-53G>T | |
| XM_011542837.2:c.2071-53G>T | XP_011541139.1:n.2071-53G>T | |
| XM_017017772.1:c.2071-53G>T | XP_016873261.1:n.2071-53G>T | |
| XR_947828.2:n.2367-53G>T | ||
| NM_001330347.2:c.2068-53G>T | NP_001317276.1:n.2068-53G>T | |
| NM_005590.4:c.1987-53G>T | NP_005581.2:n.1987-53G>T | |
| NM_005591.4:c.2071-53G>T MANE Select | NP_005582.1:n.2071-53G>T |