Linked Data
ClinVar Variation Id:
2709672
ClinVar RCV Id:
RCV003550083
dbSNP Id:
rs201427040
ExAC:
12:125434598 C / T
gnomAD v2:
12-125434598-C-T
gnomAD v3:
12-124950052-C-T
gnomAD v4:
12-124950052-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.124950052C>T , CM000674.2:g.124950052C>T | GRCh38 |
| NC_000012.11:g.125434598C>T , CM000674.1:g.125434598C>T | GRCh37 |
| NC_000012.10:g.124000551C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308736.7:c.3224G>A MANE Select | ENSP00000311135.2:p.Arg1075His | |
| ENST00000544745.2:c.2695G>A | ||
| ENST00000308736.6:c.3224G>A | ENSP00000311135.2:p.Arg1075His | |
| ENST00000539298.1:n.3324G>A | ||
| ENST00000542400.5:n.1838G>A | ||
| ENST00000544745.1:c.2585G>A | ENSP00000439009.1:p.Arg862His | |
| NM_032656.3:c.3224G>A | NP_116045.2:p.Arg1075His | |
| XM_005253590.2:c.3224G>A | XP_005253647.1:p.Arg1075His | |
| XM_005253590.3:c.3224G>A | XP_005253647.1:p.Arg1075His | |
| XR_001748819.1:n.3364G>A | ||
| XR_001748820.1:n.3317G>A | ||
| NM_032656.4:c.3224G>A MANE Select | NP_116045.2:p.Arg1075His |