Linked Data
dbSNP Id:
rs10832983
gnomAD v2:
11-18788126-G-A
gnomAD v3:
11-18766579-G-A
gnomAD v4:
11-18766579-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.18766579G>A , CM000673.2:g.18766579G>A | GRCh38 |
| NC_000011.9:g.18788126G>A , CM000673.1:g.18788126G>A | GRCh37 |
| NC_000011.8:g.18744702G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000358540.7:c.21-696C>T MANE Select | ENSP00000351342.2:n.21-696C>T | |
| ENST00000358540.6:c.21-696C>T | ENSP00000351342.2:n.21-696C>T | |
| ENST00000396168.1:c.-52-696C>T | ENSP00000379471.1:n.-52-696C>T | |
| ENST00000396170.5:c.21-696C>T | ENSP00000379473.1:n.21-696C>T | |
| NM_001039970.1:c.21-696C>T | NP_001035059.1:n.21-696C>T | |
| NM_001278236.1:c.21-696C>T | NP_001265165.1:n.21-696C>T | |
| NM_001278238.1:c.-52-696C>T | NP_001265167.1:n.-52-696C>T | |
| NM_001278239.1:c.-52-696C>T | NP_001265168.1:n.-52-696C>T | |
| NM_006906.1:c.21-696C>T | NP_008837.1:n.21-696C>T | |
| NM_032781.3:c.21-696C>T | NP_116170.3:n.21-696C>T | |
| XM_011520411.1:c.21-696C>T | XP_011518713.1:n.21-696C>T | |
| XM_011520411.3:c.21-696C>T | XP_011518713.1:n.21-696C>T | |
| XM_017018434.2:c.21-696C>T | XP_016873923.1:n.21-696C>T | |
| XM_017018435.2:c.21-696C>T | XP_016873924.1:n.21-696C>T | |
| XM_017018436.1:c.-52-696C>T | XP_016873925.1:n.-52-696C>T | |
| XM_017018437.1:c.21-696C>T | XP_016873926.1:n.21-696C>T | |
| XM_017018439.1:c.-52-696C>T | XP_016873928.1:n.-52-696C>T | |
| XM_017018440.2:c.21-696C>T | XP_016873929.1:n.21-696C>T | |
| XM_017018441.2:c.21-696C>T | XP_016873930.1:n.21-696C>T | |
| NM_006906.2:c.21-696C>T MANE Select | NP_008837.1:n.21-696C>T | |
| NM_001039970.2:c.21-696C>T | NP_001035059.1:n.21-696C>T | |
| NM_001278238.2:c.-52-696C>T | NP_001265167.1:n.-52-696C>T | |
| NM_001278239.2:c.-52-696C>T | NP_001265168.1:n.-52-696C>T | |
| NM_032781.4:c.21-696C>T | NP_116170.3:n.21-696C>T |