Linked Data
ClinVar Variation Id:
366068
ClinVar RCV Id:
RCV000327891
dbSNP Id:
rs138214905
gnomAD v2:
9-14735606-G-C
gnomAD v3:
9-14735608-G-C
gnomAD v4:
9-14735608-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.14735608G>C , CM000671.2:g.14735608G>C | GRCh38 |
| NC_000009.11:g.14735606G>C , CM000671.1:g.14735606G>C | GRCh37 |
| NC_000009.10:g.14725606G>C | NCBI36 |
| NG_017005.2:g.179629C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422223.6:c.*1788C>G | ENSP00000412940.2:n.*1788C>G | |
| NM_001177704.1:c.*1788C>G | NP_001171175.1:n.*1788C>G | |
| NM_144966.5:c.*1788C>G | NP_659403.4:n.*1788C>G | |
| XM_005251382.2:c.*1788C>G | XP_005251439.1:n.*1788C>G | |
| XM_005251384.3:c.*1788C>G | XP_005251441.1:n.*1788C>G | |
| XM_006716729.2:c.*1788C>G | XP_006716792.1:n.*1788C>G | |
| XM_011517748.1:c.*1788C>G | XP_011516050.1:n.*1788C>G | |
| XM_011517749.1:c.*1788C>G | XP_011516051.1:n.*1788C>G | |
| XM_011517750.1:c.*1788C>G | XP_011516052.1:n.*1788C>G | |
| XM_011517751.1:c.*1788C>G | XP_011516053.1:n.*1788C>G | |
| XM_011517752.1:c.*1788C>G | XP_011516054.1:n.*1788C>G | |
| XM_011517753.1:c.*1939C>G | XP_011516055.1:n.*1939C>G | |
| XM_011517758.1:c.*1788C>G | XP_011516060.1:n.*1788C>G | |
| XM_005251382.4:c.*1788C>G | XP_005251439.1:n.*1788C>G | |
| XM_005251384.4:c.*1788C>G | XP_005251441.1:n.*1788C>G | |
| XM_006716729.3:c.*1788C>G | XP_006716792.1:n.*1788C>G | |
| XM_011517758.2:c.*1788C>G | XP_011516060.1:n.*1788C>G | |
| XM_017014316.2:c.*1788C>G | XP_016869805.1:n.*1788C>G | |
| XM_017014317.1:c.*1788C>G | XP_016869806.1:n.*1788C>G | |
| XM_017014319.2:c.*1788C>G | XP_016869808.1:n.*1788C>G | |
| XM_017014320.2:c.*1788C>G | XP_016869809.1:n.*1788C>G | |
| XM_017014321.2:c.*1788C>G | XP_016869810.1:n.*1788C>G | |
| XM_017014322.1:c.*1788C>G | XP_016869811.1:n.*1788C>G | |
| XM_017014323.1:c.*1788C>G | XP_016869812.1:n.*1788C>G | |
| XM_017014324.2:c.*1788C>G | XP_016869813.1:n.*1788C>G | |
| XM_017014325.2:c.*1939C>G | XP_016869814.1:n.*1939C>G | |
| XM_017014326.1:c.*1788C>G | XP_016869815.1:n.*1788C>G | |
| XM_017014327.2:c.*1788C>G | XP_016869816.1:n.*1788C>G | |
| XR_001746194.2:n.9194C>G | ||
| XR_001746195.2:n.9191C>G | ||
| NM_001370058.1:c.*1939C>G | NP_001356987.1:n.*1939C>G | |
| NM_001370061.1:c.*1788C>G | NP_001356990.1:n.*1788C>G | |
| NR_163238.1:n.7718C>G | ||
| NR_163239.1:n.9136C>G | ||
| NR_163242.1:n.4150C>G |