Linked Data
ClinVar Variation Id:
337394
ClinVar RCV Id:
RCV000359602
dbSNP Id:
rs551581209
gnomAD v2:
2-88856894-G-A
gnomAD v3:
2-88557376-G-A
gnomAD v4:
2-88557376-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.88557376G>A , CM000664.2:g.88557376G>A | GRCh38 |
| NC_000002.11:g.88856894G>A , CM000664.1:g.88856894G>A | GRCh37 |
| NC_000002.10:g.88638009G>A | NCBI36 |
| NG_016424.1:g.75201C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652666.2:n.2981C>T | ||
| ENST00000682103.1:c.1206C>T | ||
| ENST00000682276.1:n.3156C>T | ||
| ENST00000682468.1:n.1249C>T | ||
| ENST00000682603.1:c.778C>T | ||
| ENST00000682844.1:c.1747C>T | ||
| ENST00000682892.1:c.*360C>T | ENSP00000507214.1:n.*360C>T | |
| ENST00000682952.1:n.3350C>T | ||
| ENST00000683663.1:n.3697C>T | ||
| ENST00000684455.1:c.2924C>T | ||
| ENST00000684642.1:c.2940C>T | ENSP00000507355.1:n.2940C>T | |
| ENST00000684740.1:n.3889C>T | ||
| ENST00000303236.9:c.*360C>T MANE Select | ENSP00000307235.3:n.*360C>T | |
| ENST00000652099.1:c.3905C>T | ||
| ENST00000652736.1:n.3587C>T | ||
| ENST00000303236.7:c.*360C>T | ENSP00000307235.3:n.*360C>T | |
| ENST00000419748.5:c.*360C>T | ENSP00000408325.1:n.*360C>T | |
| NM_001313915.1:c.*360C>T | NP_001300844.1:n.*360C>T | |
| NM_004836.5:c.*360C>T | NP_004827.4:n.*360C>T | |
| NM_004836.6:c.*360C>T | NP_004827.4:n.*360C>T | |
| NR_110236.1:n.651-17138G>A | ||
| XM_005264649.3:c.*360C>T | XP_005264706.1:n.*360C>T | |
| XM_017005376.2:c.*360C>T | XP_016860865.1:n.*360C>T | |
| NM_004836.7:c.*360C>T MANE Select | NP_004827.4:n.*360C>T | |
| NM_001313915.2:c.*360C>T | NP_001300844.1:n.*360C>T |