Linked Data
ClinVar Variation Id:
2149035
ClinVar RCV Id:
RCV003063693
dbSNP Id:
rs535789511
ExAC:
7:92131227 C / T
gnomAD v2:
7-92131227-C-T
gnomAD v3:
7-92501913-C-T
gnomAD v4:
7-92501913-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92501913C>T , CM000669.2:g.92501913C>T | GRCh38 |
| NC_000007.13:g.92131227C>T , CM000669.1:g.92131227C>T | GRCh37 |
| NC_000007.12:g.91969163C>T | NCBI36 |
| NG_008341.1:g.31619G>A | |
| NG_008341.2:g.31619G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.2393G>A MANE Select | ENSP00000248633.4:p.Arg798His | |
| ENST00000248633.8:c.2393G>A | ENSP00000248633.4:p.Arg798His | |
| ENST00000428214.5:c.2222G>A | ENSP00000394413.1:p.Arg741His | |
| ENST00000438045.5:c.1427G>A | ENSP00000410438.1:p.Arg476His | |
| ENST00000484913.5:n.2432G>A | ||
| ENST00000496092.1:n.191G>A | ||
| ENST00000496420.5:n.2069G>A | ||
| NM_000466.2:c.2393G>A | NP_000457.1:p.Arg798His | |
| NM_001282677.1:c.2222G>A | NP_001269606.1:p.Arg741His | |
| NM_001282678.1:c.1769G>A | NP_001269607.1:p.Arg590His | |
| XM_005250433.3:c.644G>A | XP_005250490.1:p.Arg215His | |
| XR_242246.3:n.2489G>A | ||
| XM_017012319.2:c.644G>A | XP_016867808.1:p.Arg215His | |
| XR_001744808.2:n.1420G>A | ||
| XR_242246.5:n.2440G>A | ||
| NM_000466.3:c.2393G>A MANE Select | NP_000457.1:p.Arg798His | |
| NM_001282677.2:c.2222G>A | NP_001269606.1:p.Arg741His | |
| NM_001282678.2:c.1769G>A | NP_001269607.1:p.Arg590His |