Linked Data
ClinVar Variation Id:
228276
dbSNP Id:
rs184435771
ExAC:
17:18058028 G / A
gnomAD v2:
17-18058028-G-A
gnomAD v3:
17-18154714-G-A
gnomAD v4:
17-18154714-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18154714G>A , CM000679.2:g.18154714G>A | GRCh38 |
| NC_000017.10:g.18058028G>A , CM000679.1:g.18058028G>A | GRCh37 |
| NC_000017.9:g.17998753G>A | NCBI36 |
| NG_011634.1:g.51009G>A | |
| NG_011634.2:g.51009G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642418.1:n.30G>A | ||
| ENST00000644795.1:c.-26G>A | ENSP00000495720.1:n.-26G>A | |
| ENST00000646782.1:n.338G>A | ||
| ENST00000647165.2:c.8183G>A MANE Select | ENSP00000495481.1:p.Arg2728His | |
| ENST00000651214.1:n.329G>A | ||
| ENST00000205890.9:c.8183G>A | ENSP00000205890.5:p.Arg2728His | |
| ENST00000418233.7:c.-26G>A | ENSP00000408800.3:n.-26G>A | |
| ENST00000445289.6:n.137+524G>A | ||
| ENST00000536811.5:n.138-396G>A | ||
| ENST00000585180.1:c.-26G>A | ENSP00000464462.1:n.-26G>A | |
| ENST00000615845.4:c.8183G>A | ENSP00000481642.1:p.Arg2728His | |
| NM_016239.3:c.8183G>A | NP_057323.3:p.Arg2728His | |
| XM_011523921.1:c.8177G>A | XP_011522223.1:p.Arg2726His | |
| XM_017024714.2:c.8123G>A | XP_016880203.1:p.Arg2708His | |
| XM_017024715.2:c.8186G>A | XP_016880204.1:p.Arg2729His | |
| XR_001752809.1:n.95C>T | ||
| XR_001752810.1:n.95C>T | ||
| NM_016239.4:c.8183G>A MANE Select | NP_057323.3:p.Arg2728His |