Linked Data
ClinVar Variation Id:
1418717
ClinVar RCV Id:
RCV001940501
dbSNP Id:
rs930427854
gnomAD v2:
X-153135875-C-G
gnomAD v4:
X-153870420-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153870420C>G , CM000685.2:g.153870420C>G | GRCh38 |
| NC_000023.10:g.153135875C>G , CM000685.1:g.153135875C>G | GRCh37 |
| NC_000023.9:g.152789069C>G | NCBI36 |
| NG_009645.3:g.43804G>C | |
| NG_009645.4:g.20754G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370060.7:c.774G>C MANE Select | ENSP00000359077.1:p.Gln258His | |
| ENST00000361699.8:c.774G>C | ENSP00000355380.4:p.Gln258His | |
| ENST00000361981.7:c.759G>C | ENSP00000354712.3:p.Gln253His | |
| ENST00000370055.5:c.759G>C | ENSP00000359072.1:p.Gln253His | |
| ENST00000370060.5:c.774G>C | ENSP00000359077.1:p.Gln258His | |
| NM_000425.4:c.774G>C | NP_000416.1:p.Gln258His | |
| NM_001143963.2:c.759G>C | NP_001137435.1:p.Gln253His | |
| NM_001278116.1:c.774G>C | NP_001265045.1:p.Gln258His | |
| NM_024003.3:c.774G>C | NP_076493.1:p.Gln258His | |
| NM_000425.5:c.774G>C | NP_000416.1:p.Gln258His | |
| NM_001278116.2:c.774G>C MANE Select | NP_001265045.1:p.Gln258His |