Linked Data
ClinVar Variation Id:
299660
ClinVar RCV Id:
RCV000404680
dbSNP Id:
rs56207573
ExAC:
10:26414439 C / T
gnomAD v2:
10-26414439-C-T
gnomAD v3:
10-26125510-C-T
gnomAD v4:
10-26125510-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.26125510C>T , CM000672.2:g.26125510C>T | GRCh38 |
| NC_000010.10:g.26414439C>T , CM000672.1:g.26414439C>T | GRCh37 |
| NC_000010.9:g.26454445C>T | NCBI36 |
| NG_011635.1:g.196438C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642197.1:n.2220C>T | ||
| ENST00000642920.2:c.2016C>T MANE Select | ENSP00000495965.1:p.Thr672= | |
| ENST00000647478.1:c.*11C>T | ENSP00000493932.1:n.*11C>T | |
| ENST00000265944.9:c.2016C>T | ENSP00000265944.4:p.Thr672= | |
| ENST00000543632.5:c.1776+28828C>T | ENSP00000445909.1:n.1776+28828C>T | |
| NM_017433.4:c.2016C>T | NP_059129.3:p.Thr672= | |
| XM_011519498.1:c.2016C>T | XP_011517800.1:p.Thr672= | |
| XM_011519499.1:c.2016C>T | XP_011517801.1:p.Thr672= | |
| XM_011519500.1:c.2016C>T | XP_011517802.1:p.Thr672= | |
| XM_011519501.1:c.2016C>T | XP_011517803.1:p.Thr672= | |
| XM_011519502.1:c.2016C>T | XP_011517804.1:p.Thr672= | |
| XM_011519503.1:c.2016C>T | XP_011517805.1:p.Thr672= | |
| XM_011519504.1:c.2016C>T | XP_011517806.1:p.Thr672= | |
| XM_011519505.1:c.2016C>T | XP_011517807.1:p.Thr672= | |
| XM_011519506.1:c.2016C>T | XP_011517808.1:p.Thr672= | |
| XM_011519507.1:c.1653C>T | XP_011517809.1:p.Thr551= | |
| XM_011519508.1:c.2016C>T | XP_011517810.1:p.Thr672= | |
| XM_011519509.1:c.2016C>T | XP_011517811.1:p.Thr672= | |
| XM_011519510.1:c.2016C>T | XP_011517812.1:p.Thr672= | |
| XM_011519511.1:c.2016C>T | XP_011517813.1:p.Thr672= | |
| XM_011519512.1:c.144C>T | XP_011517814.1:p.Thr48= | |
| XR_930492.1:n.2220C>T | ||
| XR_930493.1:n.2220C>T | ||
| XR_930494.1:n.2220C>T | ||
| XM_011519498.2:c.2016C>T | XP_011517800.1:p.Thr672= | |
| XM_011519500.2:c.2016C>T | XP_011517802.1:p.Thr672= | |
| XM_011519506.2:c.2016C>T | XP_011517808.1:p.Thr672= | |
| XM_011519508.2:c.2016C>T | XP_011517810.1:p.Thr672= | |
| XM_011519510.2:c.2016C>T | XP_011517812.1:p.Thr672= | |
| XM_011519511.2:c.2016C>T | XP_011517813.1:p.Thr672= | |
| XR_001747111.1:n.2220C>T | ||
| NM_017433.5:c.2016C>T MANE Select | NP_059129.3:p.Thr672= |