Linked Data
ClinVar Variation Id:
1370819
ClinVar RCV Id:
RCV001899435
dbSNP Id:
rs759330849
ExAC:
7:92134091 G / A
gnomAD v2:
7-92134091-G-A
gnomAD v4:
7-92504777-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92504777G>A , CM000669.2:g.92504777G>A | GRCh38 |
| NC_000007.13:g.92134091G>A , CM000669.1:g.92134091G>A | GRCh37 |
| NC_000007.12:g.91972027G>A | NCBI36 |
| NG_008341.1:g.28755C>T | |
| NG_008341.2:g.28755C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.2026C>T MANE Select | ENSP00000248633.4:p.His676Tyr | |
| ENST00000248633.8:c.2026C>T | ENSP00000248633.4:p.His676Tyr | |
| ENST00000428214.5:c.1900+1471C>T | ENSP00000394413.1:n.1900+1471C>T | |
| ENST00000438045.5:c.1060C>T | ENSP00000410438.1:p.His354Tyr | |
| ENST00000484913.5:n.2065C>T | ||
| ENST00000496420.5:n.1702C>T | ||
| NM_000466.2:c.2026C>T | NP_000457.1:p.His676Tyr | |
| NM_001282677.1:c.1900+1471C>T | NP_001269606.1:n.1900+1471C>T | |
| NM_001282678.1:c.1402C>T | NP_001269607.1:p.His468Tyr | |
| XM_005250433.3:c.277C>T | XP_005250490.1:p.His93Tyr | |
| XR_242246.3:n.2122C>T | ||
| XM_017012319.2:c.277C>T | XP_016867808.1:p.His93Tyr | |
| XR_001744808.2:n.1053C>T | ||
| XR_242246.5:n.2073C>T | ||
| NM_000466.3:c.2026C>T MANE Select | NP_000457.1:p.His676Tyr | |
| NM_001282677.2:c.1900+1471C>T | NP_001269606.1:n.1900+1471C>T | |
| NM_001282678.2:c.1402C>T | NP_001269607.1:p.His468Tyr |