Linked Data
ClinVar Variation Id:
2949670
ClinVar RCV Id:
RCV003804836
dbSNP Id:
rs1483153986
gnomAD v2:
10-121431925-G-T
gnomAD v3:
10-119672413-G-T
gnomAD v4:
10-119672413-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119672413G>T , CM000672.2:g.119672413G>T | GRCh38 |
| NC_000010.10:g.121431925G>T , CM000672.1:g.121431925G>T | GRCh37 |
| NC_000010.9:g.121421915G>T | NCBI36 |
| NG_016125.1:g.26044G>T , LRG_742:g.26044G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.666G>T MANE Select | ENSP00000358081.4:p.Gln222His | |
| ENST00000369085.7:c.666G>T | ENSP00000358081.3:p.Gln222His | |
| ENST00000450186.1:c.492G>T | ENSP00000410036.1:p.Gln164His | |
| NM_004281.3:c.666G>T , LRG_742t1:c.666G>T | NP_004272.2:p.Gln222His | |
| XM_005270287.1:c.666G>T | XP_005270344.1:p.Gln222His | |
| XM_005270287.2:c.666G>T | XP_005270344.1:p.Gln222His | |
| NM_004281.4:c.666G>T MANE Select | NP_004272.2:p.Gln222His |