Linked Data
ClinVar Variation Id:
298265
ClinVar RCV Id:
RCV000286376
RCV000402094
RCV000334279
RCV002522135
RCV003888708
RCV001241582
RCV000393402
dbSNP Id:
rs567985213
ExAC:
1:94548975 C / T
gnomAD v2:
1-94548975-C-T
gnomAD v3:
1-94083419-C-T
gnomAD v4:
1-94083419-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94083419C>T , CM000663.2:g.94083419C>T | GRCh38 |
| NC_000001.10:g.94548975C>T , CM000663.1:g.94548975C>T | GRCh37 |
| NC_000001.9:g.94321563C>T | NCBI36 |
| NG_009073.1:g.42731G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.791G>A MANE Select | ENSP00000359245.3:p.Arg264His | |
| ENST00000649773.1:c.791G>A | ENSP00000496882.1:p.Arg264His | |
| ENST00000370225.3:c.791G>A | ENSP00000359245.3:p.Arg264His | |
| NM_000350.2:c.791G>A | NP_000341.2:p.Arg264His | |
| NM_000350.3:c.791G>A MANE Select | NP_000341.2:p.Arg264His |