Linked Data
ClinVar Variation Id:
366063
ClinVar RCV Id:
RCV000361852
dbSNP Id:
rs7047712
gnomAD v2:
9-14735187-C-T
gnomAD v3:
9-14735189-C-T
gnomAD v4:
9-14735189-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.14735189C>T , CM000671.2:g.14735189C>T | GRCh38 |
| NC_000009.11:g.14735187C>T , CM000671.1:g.14735187C>T | GRCh37 |
| NC_000009.10:g.14725187C>T | NCBI36 |
| NG_017005.2:g.180048G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422223.6:c.*2207G>A | ENSP00000412940.2:n.*2207G>A | |
| NM_001177704.1:c.*2207G>A | NP_001171175.1:n.*2207G>A | |
| NM_144966.5:c.*2207G>A | NP_659403.4:n.*2207G>A | |
| XM_005251382.2:c.*2207G>A | XP_005251439.1:n.*2207G>A | |
| XM_005251384.3:c.*2207G>A | XP_005251441.1:n.*2207G>A | |
| XM_006716729.2:c.*2207G>A | XP_006716792.1:n.*2207G>A | |
| XM_011517748.1:c.*2207G>A | XP_011516050.1:n.*2207G>A | |
| XM_011517749.1:c.*2207G>A | XP_011516051.1:n.*2207G>A | |
| XM_011517750.1:c.*2207G>A | XP_011516052.1:n.*2207G>A | |
| XM_011517751.1:c.*2207G>A | XP_011516053.1:n.*2207G>A | |
| XM_011517752.1:c.*2207G>A | XP_011516054.1:n.*2207G>A | |
| XM_011517753.1:c.*2358G>A | XP_011516055.1:n.*2358G>A | |
| XM_011517758.1:c.*2207G>A | XP_011516060.1:n.*2207G>A | |
| XM_005251382.4:c.*2207G>A | XP_005251439.1:n.*2207G>A | |
| XM_005251384.4:c.*2207G>A | XP_005251441.1:n.*2207G>A | |
| XM_006716729.3:c.*2207G>A | XP_006716792.1:n.*2207G>A | |
| XM_011517758.2:c.*2207G>A | XP_011516060.1:n.*2207G>A | |
| XM_017014316.2:c.*2207G>A | XP_016869805.1:n.*2207G>A | |
| XM_017014317.1:c.*2207G>A | XP_016869806.1:n.*2207G>A | |
| XM_017014319.2:c.*2207G>A | XP_016869808.1:n.*2207G>A | |
| XM_017014320.2:c.*2207G>A | XP_016869809.1:n.*2207G>A | |
| XM_017014321.2:c.*2207G>A | XP_016869810.1:n.*2207G>A | |
| XM_017014322.1:c.*2207G>A | XP_016869811.1:n.*2207G>A | |
| XM_017014323.1:c.*2207G>A | XP_016869812.1:n.*2207G>A | |
| XM_017014324.2:c.*2207G>A | XP_016869813.1:n.*2207G>A | |
| XM_017014325.2:c.*2358G>A | XP_016869814.1:n.*2358G>A | |
| XM_017014326.1:c.*2207G>A | XP_016869815.1:n.*2207G>A | |
| XM_017014327.2:c.*2207G>A | XP_016869816.1:n.*2207G>A | |
| XR_001746194.2:n.9613G>A | ||
| XR_001746195.2:n.9610G>A | ||
| NM_001370058.1:c.*2358G>A | NP_001356987.1:n.*2358G>A | |
| NM_001370061.1:c.*2207G>A | NP_001356990.1:n.*2207G>A | |
| NR_163238.1:n.8137G>A | ||
| NR_163239.1:n.9555G>A | ||
| NR_163242.1:n.4569G>A |