Linked Data
ClinVar Variation Id:
252761
ClinVar RCV Id:
RCV000238957
dbSNP Id:
rs141659980
ExAC:
11:75298327 C / T
gnomAD v2:
11-75298327-C-T
gnomAD v3:
11-75587282-C-T
gnomAD v4:
11-75587282-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.75587282C>T , CM000673.2:g.75587282C>T | GRCh38 |
| NC_000011.9:g.75298327C>T , CM000673.1:g.75298327C>T | GRCh37 |
| NC_000011.8:g.74975975C>T | NCBI36 |
| NG_052841.1:g.88827G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304771.8:c.2219G>A MANE Select | ENSP00000307093.3:p.Arg740His | |
| ENST00000304771.7:c.2219G>A | ENSP00000307093.3:p.Arg740His | |
| ENST00000526740.3:c.1232G>A | ENSP00000434278.1:p.Arg411His | |
| NM_033063.1:c.2219G>A | NP_149052.1:p.Arg740His | |
| XM_011545037.1:c.1316G>A | XP_011543339.1:p.Arg439His | |
| XM_011545038.1:c.1232G>A | XP_011543340.1:p.Arg411His | |
| XR_950315.1:n.86+4001C>T | ||
| NR_145823.1:n.86+4001C>T | ||
| XM_017017755.2:c.2267G>A | XP_016873244.1:p.Arg756His | |
| XM_017017756.1:c.1364G>A | XP_016873245.1:p.Arg455His | |
| XM_017017757.1:c.1316G>A | XP_016873246.1:p.Arg439His | |
| XM_017017758.1:c.1280G>A | XP_016873247.1:p.Arg427His | |
| NM_033063.2:c.2219G>A MANE Select | NP_149052.1:p.Arg740His |