Linked Data
ClinVar Variation Id:
493426
ClinVar RCV Id:
RCV000585056
dbSNP Id:
rs138358319
ExAC:
6:31896597 C / T
gnomAD v2:
6-31896597-C-T
gnomAD v3:
6-31928820-C-T
gnomAD v4:
6-31928820-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31928820C>T , CM000668.2:g.31928820C>T | GRCh38 |
| NC_000006.11:g.31896597C>T , CM000668.1:g.31896597C>T | GRCh37 |
| NC_000006.10:g.32004576C>T | NCBI36 |
| NG_011730.1:g.6332C>T , LRG_26:g.6332C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447952.7:c.256+656C>T | ENSP00000391354.3:n.256+656C>T | |
| ENST00000452323.7:c.74-4790C>T | ENSP00000392322.2:n.74-4790C>T | |
| ENST00000468407.2:c.345C>T | ENSP00000512075.1:p.Phe115= | |
| ENST00000497706.6:c.-63-4790C>T | ENSP00000417482.2:n.-63-4790C>T | |
| ENST00000695637.1:c.-61C>T | ENSP00000512074.1:n.-61C>T | |
| ENST00000695638.1:c.345C>T | ENSP00000512076.1:p.Phe115= | |
| ENST00000695639.1:n.162+682C>T | ||
| ENST00000695644.1:c.46+1022C>T | ENSP00000512079.1:n.46+1022C>T | |
| ENST00000299367.10:c.345C>T MANE Select | ENSP00000299367.5:p.Phe115= | |
| ENST00000299367.9:c.345C>T | ENSP00000299367.5:p.Phe115= | |
| ENST00000383177.7:c.36+1022C>T | ||
| ENST00000411571.6:c.-63-4790C>T | ENSP00000388727.2:n.-63-4790C>T | |
| ENST00000413154.5:c.345C>T | ENSP00000403325.1:p.Phe115= | |
| ENST00000418949.6:c.345C>T | ENSP00000406190.2:p.Phe115= | |
| ENST00000442278.6:c.46+1022C>T | ENSP00000395683.2:n.46+1022C>T | |
| ENST00000447952.6:c.256+656C>T | ENSP00000391354.2:n.256+656C>T | |
| ENST00000452202.5:c.74-4790C>T | ENSP00000406121.1:n.74-4790C>T | |
| ENST00000452323.6:c.74-4790C>T | ENSP00000392322.2:n.74-4790C>T | |
| ENST00000456570.5:c.256+656C>T | ENSP00000410815.1:n.256+656C>T | |
| ENST00000469372.5:c.-63-4790C>T | ENSP00000418923.1:n.-63-4790C>T | |
| ENST00000477310.1:c.345C>T | ENSP00000418996.1:p.Phe115= | |
| ENST00000482060.5:c.*58C>T | ENSP00000418332.1:n.*58C>T | |
| ENST00000484636.1:c.-63-4790C>T | ENSP00000420305.1:n.-63-4790C>T | |
| ENST00000497706.5:c.-63-4790C>T | ENSP00000417482.1:n.-63-4790C>T | |
| NM_000063.5:c.345C>T | NP_000054.2:p.Phe115= | |
| NM_001145903.2:c.46+1022C>T | NP_001139375.1:n.46+1022C>T | |
| NM_001178063.2:c.74-4790C>T | NP_001171534.1:n.74-4790C>T | |
| NM_001282457.1:c.-63-4790C>T | NP_001269386.1:n.-63-4790C>T | |
| NM_001282458.1:c.258C>T | NP_001269387.1:p.Phe86= | |
| NM_001282459.1:c.345C>T | NP_001269388.1:p.Phe115= | |
| NM_000063.6:c.345C>T MANE Select | NP_000054.2:p.Phe115= | |
| NM_001145903.3:c.46+1022C>T | NP_001139375.1:n.46+1022C>T | |
| NM_001282457.2:c.-63-4790C>T | NP_001269386.1:n.-63-4790C>T | |
| NM_001282458.2:c.258C>T | NP_001269387.1:p.Phe86= | |
| NM_001282459.2:c.345C>T | NP_001269388.1:p.Phe115= | |
| NM_001178063.3:c.74-4790C>T | NP_001171534.1:n.74-4790C>T |