Linked Data
ClinVar Variation Id:
238915
ClinVar RCV Id:
RCV000227209
dbSNP Id:
rs151018293
ExAC:
7:21657265 G / A
gnomAD v2:
7-21657265-G-A
gnomAD v3:
7-21617647-G-A
gnomAD v4:
7-21617647-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21617647G>A , CM000669.2:g.21617647G>A | GRCh38 |
| NC_000007.13:g.21657265G>A , CM000669.1:g.21657265G>A | GRCh37 |
| NC_000007.12:g.21623790G>A | NCBI36 |
| NG_012886.2:g.79433G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.4124G>A MANE Select | ENSP00000475939.1:p.Arg1375His | |
| ENST00000328843.10:c.4139G>A | ENSP00000330671.7:p.Arg1380His | |
| ENST00000409508.7:c.4124G>A | ENSP00000475939.1:p.Arg1375His | |
| ENST00000620169.4:c.4139G>A | ENSP00000481693.1:p.Arg1380His | |
| NM_001277115.1:c.4124G>A | NP_001264044.1:p.Arg1375His | |
| NM_001277115.2:c.4124G>A MANE Select | NP_001264044.1:p.Arg1375His |