Linked Data
ClinVar Variation Id:
2140171
ClinVar RCV Id:
RCV003073626
dbSNP Id:
rs762436079
ExAC:
7:92126095 T / C
gnomAD v2:
7-92126095-T-C
gnomAD v3:
7-92496781-T-C
gnomAD v4:
7-92496781-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92496781T>C , CM000669.2:g.92496781T>C | GRCh38 |
| NC_000007.13:g.92126095T>C , CM000669.1:g.92126095T>C | GRCh37 |
| NC_000007.12:g.91964031T>C | NCBI36 |
| NG_008341.1:g.36751A>G | |
| NG_008341.2:g.36751A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.2719-4A>G MANE Select | ENSP00000248633.4:n.2719-4A>G | |
| ENST00000248633.8:c.2719-4A>G | ENSP00000248633.4:n.2719-4A>G | |
| ENST00000428214.5:c.2548-4A>G | ENSP00000394413.1:n.2548-4A>G | |
| ENST00000438045.5:c.1753-4A>G | ENSP00000410438.1:n.1753-4A>G | |
| ENST00000484913.5:n.2758-4A>G | ||
| ENST00000496420.5:n.2611-4A>G | ||
| NM_000466.2:c.2719-4A>G | NP_000457.1:n.2719-4A>G | |
| NM_001282677.1:c.2548-4A>G | NP_001269606.1:n.2548-4A>G | |
| NM_001282678.1:c.2095-4A>G | NP_001269607.1:n.2095-4A>G | |
| XM_005250433.3:c.970-4A>G | XP_005250490.1:n.970-4A>G | |
| XR_242246.3:n.2815-4A>G | ||
| XM_017012319.2:c.970-4A>G | XP_016867808.1:n.970-4A>G | |
| XR_001744808.2:n.1746-4A>G | ||
| XR_242246.5:n.2766-4A>G | ||
| NM_000466.3:c.2719-4A>G MANE Select | NP_000457.1:n.2719-4A>G | |
| NM_001282677.2:c.2548-4A>G | NP_001269606.1:n.2548-4A>G | |
| NM_001282678.2:c.2095-4A>G | NP_001269607.1:n.2095-4A>G |