Linked Data
ClinVar Variation Id:
371721
ClinVar RCV Id:
RCV003475984
dbSNP Id:
rs1057517485
gnomAD v4:
7-92499736-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92499736G>A , CM000669.2:g.92499736G>A | GRCh38 |
| NC_000007.13:g.92129050G>A , CM000669.1:g.92129050G>A | GRCh37 |
| NC_000007.12:g.91966986G>A | NCBI36 |
| NG_008341.1:g.33796C>T | |
| NG_008341.2:g.33796C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.2686C>T MANE Select | ENSP00000248633.4:p.Arg896Ter | |
| ENST00000248633.8:c.2686C>T | ENSP00000248633.4:p.Arg896Ter | |
| ENST00000428214.5:c.2515C>T | ENSP00000394413.1:p.Arg839Ter | |
| ENST00000438045.5:c.1720C>T | ENSP00000410438.1:p.Arg574Ter | |
| ENST00000484913.5:n.2725C>T | ||
| ENST00000496420.5:n.2578C>T | ||
| NM_000466.2:c.2686C>T | NP_000457.1:p.Arg896Ter | |
| NM_001282677.1:c.2515C>T | NP_001269606.1:p.Arg839Ter | |
| NM_001282678.1:c.2062C>T | NP_001269607.1:p.Arg688Ter | |
| XM_005250433.3:c.937C>T | XP_005250490.1:p.Arg313Ter | |
| XR_242246.3:n.2782C>T | ||
| XM_017012319.2:c.937C>T | XP_016867808.1:p.Arg313Ter | |
| XR_001744808.2:n.1713C>T | ||
| XR_242246.5:n.2733C>T | ||
| NM_000466.3:c.2686C>T MANE Select | NP_000457.1:p.Arg896Ter | |
| NM_001282677.2:c.2515C>T | NP_001269606.1:p.Arg839Ter | |
| NM_001282678.2:c.2062C>T | NP_001269607.1:p.Arg688Ter |