Linked Data
ClinVar Variation Id:
359838
dbSNP Id:
rs764724618
ExAC:
7:24738787 C / T
gnomAD v2:
7-24738787-C-T
gnomAD v3:
7-24699168-C-T
gnomAD v4:
7-24699168-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.24699168C>T , CM000669.2:g.24699168C>T | GRCh38 |
| NC_000007.13:g.24738787C>T , CM000669.1:g.24738787C>T | GRCh37 |
| NC_000007.12:g.24705312C>T | NCBI36 |
| NG_011593.1:g.63853G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342947.9:c.1349G>A | ENSP00000339587.3:p.Arg450His | |
| ENST00000409970.6:c.857G>A | ENSP00000387119.1:p.Arg286His | |
| ENST00000419307.6:c.857G>A | ENSP00000401332.1:p.Arg286His | |
| ENST00000645220.1:c.1349G>A MANE Select | ENSP00000494186.1:p.Arg450His | |
| ENST00000342947.7:c.1349G>A | ENSP00000339587.3:p.Arg450His | |
| ENST00000409775.7:c.1349G>A | ENSP00000386670.3:p.Arg450His | |
| ENST00000409970.5:c.857G>A | ENSP00000387119.1:p.Arg286His | |
| ENST00000419307.5:c.857G>A | ENSP00000401332.1:p.Arg286His | |
| ENST00000479636.1:n.3370G>A | ||
| NM_001127453.1:c.1349G>A | NP_001120925.1:p.Arg450His | |
| NM_001127454.1:c.857G>A | NP_001120926.1:p.Arg286His | |
| NM_004403.2:c.1349G>A | NP_004394.1:p.Arg450His | |
| XM_017011802.1:c.857G>A | XP_016867291.1:p.Arg286His | |
| XM_024446670.1:c.1349G>A | XP_024302438.1:p.Arg450His | |
| NM_004403.3:c.1349G>A | NP_004394.1:p.Arg450His | |
| NM_001127453.2:c.1349G>A MANE Select | NP_001120925.1:p.Arg450His | |
| NM_001127454.2:c.857G>A | NP_001120926.1:p.Arg286His |