Linked Data
ClinVar Variation Id:
1398969
ClinVar RCV Id:
RCV001915325
dbSNP Id:
rs377498743
ExAC:
7:5680915 C / T
gnomAD v2:
7-5680915-C-T
gnomAD v4:
7-5641284-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5641284C>T , CM000669.2:g.5641284C>T | GRCh38 |
| NC_000007.13:g.5680915C>T , CM000669.1:g.5680915C>T | GRCh37 |
| NC_000007.12:g.5647441C>T | NCBI36 |
| NG_029374.1:g.145447G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389902.8:c.2252G>A MANE Select | ENSP00000374552.3:p.Arg751His | |
| ENST00000389900.8:c.*1369G>A | ENSP00000374550.4:n.*1369G>A | |
| ENST00000389902.7:c.2252G>A | ENSP00000374552.3:p.Arg751His | |
| ENST00000425013.6:c.2081G>A | ENSP00000404602.2:p.Arg694His | |
| ENST00000469375.1:n.469G>A | ||
| NM_207111.3:c.2252G>A | NP_996994.1:p.Arg751His | |
| NM_207116.2:c.2081G>A | NP_996999.1:p.Arg694His | |
| XM_005249785.2:c.2252G>A | XP_005249842.1:p.Arg751His | |
| XM_006715748.1:c.947G>A | XP_006715811.1:p.Arg316His | |
| XM_011515434.1:c.2252G>A | XP_011513736.1:p.Arg751His | |
| XM_011515436.1:c.947G>A | XP_011513738.1:p.Arg316His | |
| XM_011515436.2:c.947G>A | XP_011513738.1:p.Arg316His | |
| XM_017012363.2:c.2081G>A | XP_016867852.1:p.Arg694His | |
| XM_024446805.1:c.2252G>A | XP_024302573.1:p.Arg751His | |
| XM_024446806.1:c.947G>A | XP_024302574.1:p.Arg316His | |
| XM_024446807.1:c.947G>A | XP_024302575.1:p.Arg316His | |
| NM_001377156.1:c.2081G>A | NP_001364085.1:p.Arg694His | |
| NM_207111.4:c.2252G>A MANE Select | NP_996994.1:p.Arg751His | |
| NM_207116.3:c.2081G>A | NP_996999.1:p.Arg694His |