Linked Data
dbSNP Id:
rs548427731
gnomAD v2:
11-35282246-G-A
gnomAD v3:
11-35260699-G-A
gnomAD v4:
11-35260699-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.35260699G>A , CM000673.2:g.35260699G>A | GRCh38 |
| NC_000011.9:g.35282246G>A , CM000673.1:g.35282246G>A | GRCh37 |
| NC_000011.8:g.35238822G>A | NCBI36 |
| NG_008727.1:g.163860C>T | |
| NG_008727.2:g.163860C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278379.9:c.*195C>T MANE Select | ENSP00000278379.3:n.*195C>T | |
| ENST00000395750.6:c.*195C>T | ENSP00000379099.2:n.*195C>T | |
| ENST00000395753.6:c.*195C>T | ENSP00000379102.1:n.*195C>T | |
| ENST00000479543.2:n.1472C>T | ||
| ENST00000642171.1:c.*302C>T | ENSP00000495538.1:n.*302C>T | |
| ENST00000642448.1:n.2012C>T | ||
| ENST00000642769.1:c.1041+145C>T | ||
| ENST00000643000.1:c.*195C>T | ENSP00000495164.1:n.*195C>T | |
| ENST00000643522.1:c.*195C>T | ENSP00000496375.1:n.*195C>T | |
| ENST00000644050.1:c.*195C>T | ENSP00000496123.1:n.*195C>T | |
| ENST00000644299.1:c.*195C>T | ENSP00000494669.1:n.*195C>T | |
| ENST00000644459.1:c.*412C>T | ENSP00000495861.1:n.*412C>T | |
| ENST00000644779.1:c.*195C>T | ENSP00000494258.1:n.*195C>T | |
| ENST00000645194.1:c.*195C>T | ENSP00000496093.1:n.*195C>T | |
| ENST00000645303.1:c.*195C>T | ENSP00000496667.1:n.*195C>T | |
| ENST00000645634.1:c.*195C>T | ENSP00000493945.1:n.*195C>T | |
| ENST00000646080.1:c.*195C>T | ENSP00000494113.1:n.*195C>T | |
| ENST00000647076.1:c.516+145C>T | ||
| ENST00000278379.7:c.*195C>T | ENSP00000278379.3:n.*195C>T | |
| ENST00000395750.5:c.*195C>T | ENSP00000379099.1:n.*195C>T | |
| ENST00000395753.5:c.*195C>T | ENSP00000379102.1:n.*195C>T | |
| ENST00000464522.2:c.219+4828C>T | ENSP00000435406.1:n.219+4828C>T | |
| NM_001195728.2:c.*195C>T | NP_001182657.1:n.*195C>T | |
| NM_001252652.1:c.*195C>T | NP_001239581.1:n.*195C>T | |
| NM_004171.3:c.*195C>T | NP_004162.2:n.*195C>T | |
| XM_005253067.1:c.*195C>T | XP_005253124.1:n.*195C>T | |
| XM_011520284.1:c.*195C>T | XP_011518586.1:n.*195C>T | |
| XM_011520285.1:c.*195C>T | XP_011518587.1:n.*195C>T | |
| XM_011520286.1:c.*195C>T | XP_011518588.1:n.*195C>T | |
| XM_011520287.1:c.*195C>T | XP_011518589.1:n.*195C>T | |
| XM_011520285.2:c.*195C>T | XP_011518587.1:n.*195C>T | |
| XM_017018136.1:c.*195C>T | XP_016873625.1:n.*195C>T | |
| XM_017018137.1:c.*195C>T | XP_016873626.1:n.*195C>T | |
| XM_017018138.1:c.*195C>T | XP_016873627.1:n.*195C>T | |
| XM_017018139.1:c.*195C>T | XP_016873628.1:n.*195C>T | |
| NM_004171.4:c.*195C>T MANE Select | NP_004162.2:n.*195C>T | |
| NM_001195728.3:c.*195C>T | NP_001182657.1:n.*195C>T | |
| NM_001252652.2:c.*195C>T | NP_001239581.1:n.*195C>T |