Linked Data
ClinVar Variation Id:
93104
dbSNP Id:
rs398123409
gnomAD v2:
7-92131390-G-A
gnomAD v3:
7-92502076-G-A
gnomAD v4:
7-92502076-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92502076G>A , CM000669.2:g.92502076G>A | GRCh38 |
| NC_000007.13:g.92131390G>A , CM000669.1:g.92131390G>A | GRCh37 |
| NC_000007.12:g.91969326G>A | NCBI36 |
| NG_008341.1:g.31456C>T | |
| NG_008341.2:g.31456C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.2230C>T MANE Select | ENSP00000248633.4:p.Gln744Ter | |
| ENST00000248633.8:c.2230C>T | ENSP00000248633.4:p.Gln744Ter | |
| ENST00000428214.5:c.2059C>T | ENSP00000394413.1:p.Gln687Ter | |
| ENST00000438045.5:c.1264C>T | ENSP00000410438.1:p.Gln422Ter | |
| ENST00000484913.5:n.2269C>T | ||
| ENST00000496092.1:n.28C>T | ||
| ENST00000496420.5:n.1906C>T | ||
| NM_000466.2:c.2230C>T | NP_000457.1:p.Gln744Ter | |
| NM_001282677.1:c.2059C>T | NP_001269606.1:p.Gln687Ter | |
| NM_001282678.1:c.1606C>T | NP_001269607.1:p.Gln536Ter | |
| XM_005250433.3:c.481C>T | XP_005250490.1:p.Gln161Ter | |
| XR_242246.3:n.2326C>T | ||
| XM_017012319.2:c.481C>T | XP_016867808.1:p.Gln161Ter | |
| XR_001744808.2:n.1257C>T | ||
| XR_242246.5:n.2277C>T | ||
| NM_000466.3:c.2230C>T MANE Select | NP_000457.1:p.Gln744Ter | |
| NM_001282677.2:c.2059C>T | NP_001269606.1:p.Gln687Ter | |
| NM_001282678.2:c.1606C>T | NP_001269607.1:p.Gln536Ter |