Linked Data
dbSNP Id:
rs528817640
gnomAD v2:
17-1399003-G-A
gnomAD v3:
17-1495709-G-A
gnomAD v4:
17-1495709-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1495709G>A , CM000679.2:g.1495709G>A | GRCh38 |
| NC_000017.10:g.1399003G>A , CM000679.1:g.1399003G>A | GRCh37 |
| NC_000017.9:g.1345753G>A | NCBI36 |
| NG_029891.1:g.26180C>T | |
| NG_047063.1:g.1999C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421807.7:c.*114C>T MANE Select | ENSP00000413937.2:n.*114C>T | |
| ENST00000320345.10:c.*114C>T | ENSP00000318476.6:n.*114C>T | |
| ENST00000350761.9:c.*1052C>T | ENSP00000254712.5:n.*1052C>T | |
| ENST00000406424.8:c.*114C>T | ENSP00000385177.4:n.*114C>T | |
| ENST00000421807.6:c.*114C>T | ENSP00000413937.2:n.*114C>T | |
| NM_001135642.1:c.*114C>T | NP_001129114.1:n.*114C>T | |
| NM_016532.3:c.*114C>T | NP_057616.2:n.*114C>T | |
| NM_130766.2:c.*114C>T | NP_570122.1:n.*114C>T | |
| XM_005256683.2:c.*114C>T | XP_005256740.1:n.*114C>T | |
| XM_005256685.1:c.*114C>T | XP_005256742.1:n.*114C>T | |
| XM_005256686.1:c.*114C>T | XP_005256743.1:n.*114C>T | |
| XM_011523934.1:c.*114C>T | XP_011522236.1:n.*114C>T | |
| XM_011523935.1:c.*114C>T | XP_011522237.1:n.*114C>T | |
| XM_011523936.1:c.*114C>T | XP_011522238.1:n.*114C>T | |
| XM_005256686.2:c.*114C>T | XP_005256743.1:n.*114C>T | |
| XM_011523936.2:c.*114C>T | XP_011522238.1:n.*114C>T | |
| XM_017024756.1:c.*114C>T | XP_016880245.1:n.*114C>T | |
| XM_017024757.2:c.*114C>T | XP_016880246.1:n.*114C>T | |
| XM_017024758.2:c.*114C>T | XP_016880247.1:n.*114C>T | |
| XM_017024759.1:c.*114C>T | XP_016880248.1:n.*114C>T | |
| XM_024450802.1:c.*114C>T | XP_024306570.1:n.*114C>T | |
| NM_016532.4:c.*114C>T MANE Select | NP_057616.2:n.*114C>T | |
| NM_001135642.2:c.*114C>T | NP_001129114.1:n.*114C>T | |
| NM_130766.3:c.*114C>T | NP_570122.1:n.*114C>T |