Linked Data
ClinVar Variation Id:
337398
ClinVar RCV Id:
RCV000270429
dbSNP Id:
rs886056415
gnomAD v4:
2-88557561-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.88557561T>A , CM000664.2:g.88557561T>A | GRCh38 |
| NC_000002.11:g.88857079T>A , CM000664.1:g.88857079T>A | GRCh37 |
| NC_000002.10:g.88638194T>A | NCBI36 |
| NG_016424.1:g.75016A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652666.2:n.2796A>T | ||
| ENST00000682103.1:c.1021A>T | ||
| ENST00000682276.1:n.2971A>T | ||
| ENST00000682468.1:n.1064A>T | ||
| ENST00000682603.1:c.593A>T | ||
| ENST00000682844.1:c.1562A>T | ||
| ENST00000682892.1:c.*175A>T | ENSP00000507214.1:n.*175A>T | |
| ENST00000682952.1:n.3165A>T | ||
| ENST00000683663.1:n.3512A>T | ||
| ENST00000684455.1:c.2739A>T | ||
| ENST00000684642.1:c.2755A>T | ENSP00000507355.1:n.2755A>T | |
| ENST00000684740.1:n.3704A>T | ||
| ENST00000303236.9:c.*175A>T MANE Select | ENSP00000307235.3:n.*175A>T | |
| ENST00000652099.1:c.3720A>T | ||
| ENST00000652736.1:n.3402A>T | ||
| ENST00000303236.7:c.*175A>T | ENSP00000307235.3:n.*175A>T | |
| ENST00000419748.5:c.*175A>T | ENSP00000408325.1:n.*175A>T | |
| NM_001313915.1:c.*175A>T | NP_001300844.1:n.*175A>T | |
| NM_004836.5:c.*175A>T | NP_004827.4:n.*175A>T | |
| NM_004836.6:c.*175A>T | NP_004827.4:n.*175A>T | |
| NR_110236.1:n.651-16953T>A | ||
| XM_005264649.3:c.*175A>T | XP_005264706.1:n.*175A>T | |
| XM_017005376.2:c.*175A>T | XP_016860865.1:n.*175A>T | |
| NM_004836.7:c.*175A>T MANE Select | NP_004827.4:n.*175A>T | |
| NM_001313915.2:c.*175A>T | NP_001300844.1:n.*175A>T |