Linked Data
ClinVar Variation Id:
39251
dbSNP Id:
rs199476201
gnomAD v2:
4-187130097-G-A
gnomAD v4:
4-186208943-G-A
PubMed:
PMID:22497028
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186208943G>A , CM000666.2:g.186208943G>A | GRCh38 |
| NC_000004.11:g.187130097G>A , CM000666.1:g.187130097G>A | GRCh37 |
| NC_000004.10:g.187367091G>A | NCBI36 |
| NG_007965.1:g.22424G>A | |
| NG_012095.2:g.4965G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378802.5:c.1169G>A MANE Select | ENSP00000368079.4:p.Arg390His | |
| ENST00000378802.4:c.1169G>A | ENSP00000368079.4:p.Arg390His | |
| ENST00000502665.1:n.404G>A | ||
| ENST00000507209.5:n.5867G>A | ||
| ENST00000513354.5:n.259G>A | ||
| NM_207352.3:c.1169G>A | NP_997235.3:p.Arg390His | |
| XM_005262935.2:c.1169G>A | XP_005262992.1:p.Arg390His | |
| XM_006714184.2:c.773G>A | XP_006714247.1:p.Arg258His | |
| XM_005262935.4:c.1169G>A | XP_005262992.1:p.Arg390His | |
| XM_017008037.1:c.773G>A | XP_016863526.1:p.Arg258His | |
| NM_207352.4:c.1169G>A MANE Select | NP_997235.3:p.Arg390His |