Linked Data
ClinVar Variation Id:
356242
dbSNP Id:
rs201336507
ExAC:
6:31895766 C / T
gnomAD v2:
6-31895766-C-T
gnomAD v3:
6-31927989-C-T
gnomAD v4:
6-31927989-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31927989C>T , CM000668.2:g.31927989C>T | GRCh38 |
| NC_000006.11:g.31895766C>T , CM000668.1:g.31895766C>T | GRCh37 |
| NC_000006.10:g.32003745C>T | NCBI36 |
| NG_011730.1:g.5501C>T , LRG_26:g.5501C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447952.7:c.81C>T | ENSP00000391354.3:p.Asn27= | |
| ENST00000452323.7:c.74-5621C>T | ENSP00000392322.2:n.74-5621C>T | |
| ENST00000468407.2:c.81C>T | ENSP00000512075.1:p.Asn27= | |
| ENST00000497706.6:c.-63-5621C>T | ENSP00000417482.2:n.-63-5621C>T | |
| ENST00000695637.1:c.-325C>T | ENSP00000512074.1:n.-325C>T | |
| ENST00000695638.1:c.81C>T | ENSP00000512076.1:p.Asn27= | |
| ENST00000695639.1:n.13C>T | ||
| ENST00000695644.1:c.46+191C>T | ENSP00000512079.1:n.46+191C>T | |
| ENST00000299367.10:c.81C>T MANE Select | ENSP00000299367.5:p.Asn27= | |
| ENST00000299367.9:c.81C>T | ENSP00000299367.5:p.Asn27= | |
| ENST00000383177.7:c.36+191C>T | ||
| ENST00000411571.6:c.-63-5621C>T | ENSP00000388727.2:n.-63-5621C>T | |
| ENST00000413154.5:c.81C>T | ENSP00000403325.1:p.Asn27= | |
| ENST00000418949.6:c.81C>T | ENSP00000406190.2:p.Asn27= | |
| ENST00000442278.6:c.46+191C>T | ENSP00000395683.2:n.46+191C>T | |
| ENST00000447952.6:c.81C>T | ENSP00000391354.2:p.Asn27= | |
| ENST00000452202.5:c.74-5621C>T | ENSP00000406121.1:n.74-5621C>T | |
| ENST00000452323.6:c.74-5621C>T | ENSP00000392322.2:n.74-5621C>T | |
| ENST00000456570.5:c.81C>T | ENSP00000410815.1:p.Asn27= | |
| ENST00000469372.5:c.-63-5621C>T | ENSP00000418923.1:n.-63-5621C>T | |
| ENST00000477310.1:c.81C>T | ENSP00000418996.1:p.Asn27= | |
| ENST00000482060.5:c.81C>T | ENSP00000418332.1:p.Asn27= | |
| ENST00000484636.1:c.-63-5621C>T | ENSP00000420305.1:n.-63-5621C>T | |
| ENST00000497706.5:c.-63-5621C>T | ENSP00000417482.1:n.-63-5621C>T | |
| NM_000063.5:c.81C>T | NP_000054.2:p.Asn27= | |
| NM_001145903.2:c.46+191C>T | NP_001139375.1:n.46+191C>T | |
| NM_001178063.2:c.74-5621C>T | NP_001171534.1:n.74-5621C>T | |
| NM_001282457.1:c.-63-5621C>T | NP_001269386.1:n.-63-5621C>T | |
| NM_001282458.1:c.-35C>T | NP_001269387.1:n.-35C>T | |
| NM_001282459.1:c.81C>T | NP_001269388.1:p.Asn27= | |
| NM_000063.6:c.81C>T MANE Select | NP_000054.2:p.Asn27= | |
| NM_001145903.3:c.46+191C>T | NP_001139375.1:n.46+191C>T | |
| NM_001282457.2:c.-63-5621C>T | NP_001269386.1:n.-63-5621C>T | |
| NM_001282458.2:c.-35C>T | NP_001269387.1:n.-35C>T | |
| NM_001282459.2:c.81C>T | NP_001269388.1:p.Asn27= | |
| NM_001178063.3:c.74-5621C>T | NP_001171534.1:n.74-5621C>T |