Linked Data
ClinVar Variation Id:
358310
dbSNP Id:
rs376407844
ExAC:
7:100775187 C / T
gnomAD v2:
7-100775187-C-T
gnomAD v3:
7-101131906-C-T
gnomAD v4:
7-101131906-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.101131906C>T , CM000669.2:g.101131906C>T | GRCh38 |
| NC_000007.13:g.100775187C>T , CM000669.1:g.100775187C>T | GRCh37 |
| NC_000007.12:g.100561907C>T | NCBI36 |
| NG_013213.1:g.9809C>T , LRG_597:g.9809C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223095.5:c.537C>T MANE Select | ENSP00000223095.4:p.Ala179= | |
| ENST00000223095.4:c.537C>T | ENSP00000223095.4:p.Ala179= | |
| NM_000602.4:c.537C>T , LRG_597t1:c.537C>T | NP_000593.1:p.Ala179= | |
| NM_000602.5:c.537C>T MANE Select | NP_000593.1:p.Ala179= | |
| NM_001386456.1:c.285C>T | NP_001373385.1:p.Ala95= | |
| NM_001386457.1:c.537C>T | NP_001373386.1:p.Ala179= | |
| NM_001386458.1:c.537C>T | NP_001373387.1:p.Ala179= | |
| NM_001386459.1:c.537C>T | NP_001373388.1:p.Ala179= | |
| NM_001386460.1:c.537C>T | NP_001373389.1:p.Ala179= | |
| NM_001386461.1:c.537C>T | NP_001373390.1:p.Ala179= | |
| NM_001386462.1:c.336C>T | NP_001373391.1:p.Ala112= | |
| NM_001386463.1:c.531C>T | NP_001373392.1:p.Ala177= | |
| NM_001386464.1:c.537C>T | NP_001373393.1:p.Ala179= | |
| NM_001386465.1:c.537C>T | NP_001373394.1:p.Ala179= | |
| NM_001386466.1:c.561C>T | NP_001373395.1:p.Ala187= |