Linked Data
ClinVar Variation Id:
12128
ClinVar RCV Id:
RCV000012911
dbSNP Id:
rs28934590
gnomAD v2:
6-31901653-C-T
gnomAD v3:
6-31933876-C-T
gnomAD v4:
6-31933876-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31933876C>T , CM000668.2:g.31933876C>T | GRCh38 |
| NC_000006.11:g.31901653C>T , CM000668.1:g.31901653C>T | GRCh37 |
| NC_000006.10:g.32009632C>T | NCBI36 |
| NG_011730.1:g.11388C>T , LRG_26:g.11388C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000447952.7:c.440C>T | ENSP00000391354.3:p.Ser147Phe | |
| ENST00000452323.7:c.257C>T | ENSP00000392322.2:p.Ser86Phe | |
| ENST00000468407.2:c.626C>T | ENSP00000512075.1:p.Ser209Phe | |
| ENST00000497706.6:c.121C>T | ENSP00000417482.2:p.Leu41Phe | |
| ENST00000695637.1:c.221C>T | ENSP00000512074.1:p.Ser74Phe | |
| ENST00000695638.1:c.626C>T | ENSP00000512076.1:p.Ser209Phe | |
| ENST00000695639.1:n.429C>T | ||
| ENST00000695640.1:n.564C>T | ||
| ENST00000695644.1:c.230C>T | ENSP00000512079.1:p.Ser77Phe | |
| ENST00000299367.10:c.626C>T MANE Select | ENSP00000299367.5:p.Ser209Phe | |
| ENST00000299367.9:c.626C>T | ENSP00000299367.5:p.Ser209Phe | |
| ENST00000383177.7:c.220C>T | ||
| ENST00000411571.6:c.121C>T | ENSP00000388727.2:p.Leu41Phe | |
| ENST00000418949.6:c.626C>T | ENSP00000406190.2:p.Ser209Phe | |
| ENST00000442278.6:c.230C>T | ENSP00000395683.2:p.Ser77Phe | |
| ENST00000447952.6:c.440C>T | ENSP00000391354.2:p.Ser147Phe | |
| ENST00000452202.5:c.257C>T | ENSP00000406121.1:p.Ser86Phe | |
| ENST00000452323.6:c.257C>T | ENSP00000392322.2:p.Ser86Phe | |
| ENST00000456570.5:c.440C>T | ENSP00000410815.1:p.Ser147Phe | |
| ENST00000469372.5:c.111+93C>T | ENSP00000418923.1:n.111+93C>T | |
| ENST00000477310.1:c.443-3443C>T | ENSP00000418996.1:n.443-3443C>T | |
| ENST00000482060.5:c.*339C>T | ENSP00000418332.1:n.*339C>T | |
| ENST00000484636.1:c.121C>T | ENSP00000420305.1:p.Leu41Phe | |
| ENST00000494905.1:c.203C>T | ENSP00000419048.1:p.Ser68Phe | |
| ENST00000497706.5:c.121C>T | ENSP00000417482.1:p.Leu41Phe | |
| NM_000063.5:c.626C>T | NP_000054.2:p.Ser209Phe | |
| NM_001145903.2:c.230C>T | NP_001139375.1:p.Ser77Phe | |
| NM_001178063.2:c.257C>T | NP_001171534.1:p.Ser86Phe | |
| NM_001282457.1:c.111+93C>T | NP_001269386.1:n.111+93C>T | |
| NM_001282458.1:c.539C>T | NP_001269387.1:p.Ser180Phe | |
| NM_001282459.1:c.626C>T | NP_001269388.1:p.Ser209Phe | |
| NM_000063.6:c.626C>T MANE Select | NP_000054.2:p.Ser209Phe | |
| NM_001145903.3:c.230C>T | NP_001139375.1:p.Ser77Phe | |
| NM_001282457.2:c.111+93C>T | NP_001269386.1:n.111+93C>T | |
| NM_001282458.2:c.539C>T | NP_001269387.1:p.Ser180Phe | |
| NM_001282459.2:c.626C>T | NP_001269388.1:p.Ser209Phe | |
| NM_001178063.3:c.257C>T | NP_001171534.1:p.Ser86Phe |