Linked Data
ClinVar Variation Id:
855542
ClinVar RCV Id:
RCV001060826
dbSNP Id:
rs773235814
ExAC:
12:5154018 G / T
gnomAD v2:
12-5154018-G-T
gnomAD v3:
12-5044852-G-T
gnomAD v4:
12-5044852-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5044852G>T , CM000674.2:g.5044852G>T | GRCh38 |
| NC_000012.11:g.5154018G>T , CM000674.1:g.5154018G>T | GRCh37 |
| NC_000012.10:g.5024279G>T | NCBI36 |
| NG_012198.1:g.5934G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.705G>T MANE Select | ENSP00000252321.3:p.Gln235His | |
| ENST00000252321.4:c.705G>T | ENSP00000252321.3:p.Gln235His | |
| NM_002234.3:c.705G>T | NP_002225.2:p.Gln235His | |
| NM_002234.4:c.705G>T MANE Select | NP_002225.2:p.Gln235His |