Linked Data
ClinVar Variation Id:
319645
dbSNP Id:
rs4784319
gnomAD v2:
16-53635933-A-T
gnomAD v3:
16-53602021-A-T
gnomAD v4:
16-53602021-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.53602021A>T , CM000678.2:g.53602021A>T | GRCh38 |
| NC_000016.9:g.53635933A>T , CM000678.1:g.53635933A>T | GRCh37 |
| NC_000016.8:g.52193434A>T | NCBI36 |
| NG_008991.2:g.106839T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262135.9:c.*55T>A | ENSP00000262135.4:n.*55T>A | |
| ENST00000565343.2:n.4427T>A | ||
| ENST00000621565.5:c.*55T>A | ENSP00000480698.1:n.*55T>A | |
| ENST00000647211.2:c.*55T>A MANE Select | ENSP00000493946.1:n.*55T>A | |
| ENST00000680193.1:c.*763T>A | ENSP00000506379.1:n.*763T>A | |
| ENST00000681587.1:n.1775T>A | ||
| ENST00000262135.8:c.*55T>A | ENSP00000262135.4:n.*55T>A | |
| ENST00000379925.7:c.*55T>A | ENSP00000369257.3:n.*55T>A | |
| ENST00000563746.5:c.*55T>A | ENSP00000457889.1:n.*55T>A | |
| ENST00000621565.4:c.*55T>A | ENSP00000480698.1:n.*55T>A | |
| NM_001127897.1:c.*55T>A | NP_001121369.1:n.*55T>A | |
| NM_001127897.2:c.*55T>A | NP_001121369.1:n.*55T>A | |
| NM_001308334.1:c.*55T>A | NP_001295263.1:n.*55T>A | |
| NM_015272.2:c.*55T>A | NP_056087.2:n.*55T>A | |
| NM_015272.3:c.*55T>A | NP_056087.2:n.*55T>A | |
| XM_005255867.1:c.*55T>A | XP_005255924.1:n.*55T>A | |
| XM_005255868.1:c.*55T>A | XP_005255925.1:n.*55T>A | |
| XM_005255871.2:c.*55T>A | XP_005255928.1:n.*55T>A | |
| XM_011522968.1:c.*55T>A | XP_011521270.1:n.*55T>A | |
| XM_011522974.1:c.*55T>A | XP_011521276.1:n.*55T>A | |
| NM_001127897.3:c.*55T>A | NP_001121369.1:n.*55T>A | |
| NM_001308334.2:c.*55T>A | NP_001295263.1:n.*55T>A | |
| NM_001330538.1:c.*55T>A | NP_001317467.1:n.*55T>A | |
| NM_015272.4:c.*55T>A | NP_056087.2:n.*55T>A | |
| XM_005255868.2:c.*55T>A | XP_005255925.1:n.*55T>A | |
| XM_017023094.2:c.*55T>A | XP_016878583.1:n.*55T>A | |
| XM_017023095.2:c.*55T>A | XP_016878584.1:n.*55T>A | |
| XM_017023098.1:c.*55T>A | XP_016878587.1:n.*55T>A | |
| XM_017023099.1:c.*55T>A | XP_016878588.1:n.*55T>A | |
| NM_015272.5:c.*55T>A MANE Select | NP_056087.2:n.*55T>A | |
| NM_001127897.4:c.*55T>A | NP_001121369.1:n.*55T>A | |
| NM_001330538.2:c.*55T>A | NP_001317467.1:n.*55T>A | |
| NM_001308334.3:c.*55T>A | NP_001295263.1:n.*55T>A |