Linked Data
ClinVar Variation Id:
319625
dbSNP Id:
rs188203905
gnomAD v2:
16-53634361-C-T
gnomAD v3:
16-53600449-C-T
gnomAD v4:
16-53600449-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.53600449C>T , CM000678.2:g.53600449C>T | GRCh38 |
| NC_000016.9:g.53634361C>T , CM000678.1:g.53634361C>T | GRCh37 |
| NC_000016.8:g.52191862C>T | NCBI36 |
| NG_008991.2:g.108411G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262135.9:c.*1627G>A | ENSP00000262135.4:n.*1627G>A | |
| ENST00000565343.2:n.5999G>A | ||
| ENST00000621565.5:c.*1627G>A | ENSP00000480698.1:n.*1627G>A | |
| ENST00000647211.2:c.*1627G>A MANE Select | ENSP00000493946.1:n.*1627G>A | |
| ENST00000680193.1:c.*2335G>A | ENSP00000506379.1:n.*2335G>A | |
| ENST00000681587.1:n.3347G>A | ||
| ENST00000262135.8:c.*1627G>A | ENSP00000262135.4:n.*1627G>A | |
| ENST00000621565.4:c.*1627G>A | ENSP00000480698.1:n.*1627G>A | |
| NM_001127897.1:c.*1627G>A | NP_001121369.1:n.*1627G>A | |
| NM_001127897.2:c.*1627G>A | NP_001121369.1:n.*1627G>A | |
| NM_001308334.1:c.*1627G>A | NP_001295263.1:n.*1627G>A | |
| NM_015272.2:c.*1627G>A | NP_056087.2:n.*1627G>A | |
| NM_015272.3:c.*1627G>A | NP_056087.2:n.*1627G>A | |
| XM_005255867.1:c.*1627G>A | XP_005255924.1:n.*1627G>A | |
| XM_005255868.1:c.*1627G>A | XP_005255925.1:n.*1627G>A | |
| XM_005255871.2:c.*1627G>A | XP_005255928.1:n.*1627G>A | |
| XM_011522968.1:c.*1627G>A | XP_011521270.1:n.*1627G>A | |
| XM_011522974.1:c.*1627G>A | XP_011521276.1:n.*1627G>A | |
| NM_001127897.3:c.*1627G>A | NP_001121369.1:n.*1627G>A | |
| NM_001308334.2:c.*1627G>A | NP_001295263.1:n.*1627G>A | |
| NM_001330538.1:c.*1627G>A | NP_001317467.1:n.*1627G>A | |
| NM_015272.4:c.*1627G>A | NP_056087.2:n.*1627G>A | |
| XM_005255868.2:c.*1627G>A | XP_005255925.1:n.*1627G>A | |
| XM_017023094.2:c.*1627G>A | XP_016878583.1:n.*1627G>A | |
| XM_017023095.2:c.*1627G>A | XP_016878584.1:n.*1627G>A | |
| XM_017023098.1:c.*1627G>A | XP_016878587.1:n.*1627G>A | |
| XM_017023099.1:c.*1627G>A | XP_016878588.1:n.*1627G>A | |
| NM_015272.5:c.*1627G>A MANE Select | NP_056087.2:n.*1627G>A | |
| NM_001127897.4:c.*1627G>A | NP_001121369.1:n.*1627G>A | |
| NM_001330538.2:c.*1627G>A | NP_001317467.1:n.*1627G>A | |
| NM_001308334.3:c.*1627G>A | NP_001295263.1:n.*1627G>A |