Linked Data
ClinVar Variation Id:
325059
ClinVar RCV Id:
RCV000319926
dbSNP Id:
rs775117744
ExAC:
17:72916587 C / T
gnomAD v2:
17-72916587-C-T
gnomAD v3:
17-74920492-C-T
gnomAD v4:
17-74920492-C-T
COSMIC:
COSM273445
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74920492C>T , CM000679.2:g.74920492C>T | GRCh38 |
| NC_000017.10:g.72916587C>T , CM000679.1:g.72916587C>T | GRCh37 |
| NC_000017.9:g.70428182C>T | NCBI36 |
| NG_007882.1:g.7765G>A | |
| NG_033062.1:g.1218C>T | |
| NG_007882.2:g.7772G>A | |
| NG_033062.2:g.1218C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000614341.5:c.344G>A MANE Select | ENSP00000480279.1:p.Arg115His | |
| ENST00000579243.1:c.291G>A | ENSP00000462568.1:p.Ala97= | |
| ENST00000614341.4:c.344G>A | ENSP00000480279.1:p.Arg115His | |
| NM_001282489.2:c.35G>A | NP_001269418.1:p.Arg12His | |
| NM_173477.4:c.344G>A | NP_775748.2:p.Arg115His | |
| XM_011524296.1:c.35G>A | XP_011522598.1:p.Arg12His | |
| XM_011524296.2:c.35G>A | XP_011522598.1:p.Arg12His | |
| NM_173477.5:c.344G>A MANE Select | NP_775748.2:p.Arg115His | |
| NM_001282489.3:c.35G>A | NP_001269418.1:p.Arg12His |