Linked Data
ClinVar Variation Id:
3100452
ClinVar RCV Id:
RCV004393349
dbSNP Id:
rs371296403
ExAC:
5:150639324 G / T
gnomAD v2:
5-150639324-G-T
gnomAD v3:
5-151259763-G-T
gnomAD v4:
5-151259763-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151259763G>T , CM000667.2:g.151259763G>T | GRCh38 |
| NC_000005.9:g.150639324G>T , CM000667.1:g.150639324G>T | GRCh37 |
| NC_000005.8:g.150619517G>T | NCBI36 |
| NG_009059.1:g.11712G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357164.4:c.90G>T MANE Select | ENSP00000349687.3:p.Gln30His | |
| ENST00000357164.3:c.90G>T | ENSP00000349687.3:p.Gln30His | |
| ENST00000523466.5:c.135G>T | ENSP00000429100.1:p.Gln45His | |
| NM_000405.4:c.90G>T | NP_000396.2:p.Gln30His | |
| NM_001167607.1:c.90G>T | NP_001161079.1:p.Gln30His | |
| NM_000405.5:c.90G>T MANE Select | NP_000396.2:p.Gln30His | |
| NM_001167607.2:c.90G>T | NP_001161079.1:p.Gln30His | |
| NM_001167607.3:c.90G>T | NP_001161079.1:p.Gln30His |