Linked Data
ClinVar Variation Id:
358316
ClinVar RCV Id:
RCV000341849
dbSNP Id:
rs11178
gnomAD v2:
7-100781084-T-C
gnomAD v3:
7-101137803-T-C
gnomAD v4:
7-101137803-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.101137803T>C , CM000669.2:g.101137803T>C | GRCh38 |
| NC_000007.13:g.100781084T>C , CM000669.1:g.100781084T>C | GRCh37 |
| NC_000007.12:g.100567804T>C | NCBI36 |
| NG_013213.1:g.15706T>C , LRG_597:g.15706T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000223095.5:c.*361T>C MANE Select | ENSP00000223095.4:n.*361T>C | |
| ENST00000223095.4:c.*361T>C | ENSP00000223095.4:n.*361T>C | |
| NM_000602.4:c.*361T>C , LRG_597t1:c.*361T>C | NP_000593.1:n.*361T>C | |
| NM_000602.5:c.*361T>C MANE Select | NP_000593.1:n.*361T>C | |
| NM_001386456.1:c.*361T>C | NP_001373385.1:n.*361T>C | |
| NM_001386457.1:c.*372T>C | NP_001373386.1:n.*372T>C | |
| NM_001386458.1:c.*361T>C | NP_001373387.1:n.*361T>C | |
| NM_001386459.1:c.1195-205T>C | NP_001373388.1:n.1195-205T>C | |
| NM_001386460.1:c.1185T>C | NP_001373389.1:p.Asp395= | |
| NM_001386461.1:c.1088-20T>C | NP_001373390.1:n.1088-20T>C | |
| NM_001386462.1:c.*361T>C | NP_001373391.1:n.*361T>C | |
| NM_001386463.1:c.*361T>C | NP_001373392.1:n.*361T>C | |
| NM_001386464.1:c.*452T>C | NP_001373393.1:n.*452T>C | |
| NM_001386465.1:c.*361T>C | NP_001373394.1:n.*361T>C | |
| NM_001386466.1:c.*361T>C | NP_001373395.1:n.*361T>C |