Linked Data
ClinVar Variation Id:
12131
ClinVar RCV Id:
RCV000012914
dbSNP Id:
rs547154
gnomAD v2:
6-31910938-G-T
gnomAD v3:
6-31943161-G-T
gnomAD v4:
6-31943161-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31943161G>T , CM000668.2:g.31943161G>T | GRCh38 |
| NC_000006.11:g.31910938G>T , CM000668.1:g.31910938G>T | GRCh37 |
| NC_000006.10:g.32018917G>T | NCBI36 |
| NG_008191.1:g.2218G>T , LRG_136:g.2218G>T | |
| NG_011730.1:g.20673G>T , LRG_26:g.20673G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000447952.7:c.1174+62G>T | ENSP00000391354.3:n.1174+62G>T | |
| ENST00000452323.7:c.718+62G>T | ENSP00000392322.2:n.718+62G>T | |
| ENST00000468407.2:c.1360+62G>T | ENSP00000512075.1:n.1360+62G>T | |
| ENST00000497706.6:c.721+62G>T | ENSP00000417482.2:n.721+62G>T | |
| ENST00000695637.1:c.955+62G>T | ENSP00000512074.1:n.955+62G>T | |
| ENST00000695638.1:c.1360+62G>T | ENSP00000512076.1:n.1360+62G>T | |
| ENST00000695644.1:c.964+62G>T | ENSP00000512079.1:n.964+62G>T | |
| ENST00000695646.1:n.894G>T | ||
| ENST00000299367.10:c.1360+62G>T MANE Select | ENSP00000299367.5:n.1360+62G>T | |
| ENST00000299367.9:c.1360+62G>T | ENSP00000299367.5:n.1360+62G>T | |
| ENST00000383177.7:c.681+62G>T | ||
| ENST00000442278.6:c.964+62G>T | ENSP00000395683.2:n.964+62G>T | |
| ENST00000452323.6:c.718+62G>T | ENSP00000392322.2:n.718+62G>T | |
| ENST00000456570.5:c.901+62G>T | ENSP00000410815.1:n.901+62G>T | |
| ENST00000469372.5:c.622+62G>T | ENSP00000418923.1:n.622+62G>T | |
| ENST00000477310.1:c.674-64G>T | ENSP00000418996.1:n.674-64G>T | |
| ENST00000482060.5:c.*1073+62G>T | ENSP00000418332.1:n.*1073+62G>T | |
| ENST00000485690.5:c.572+62G>T | ||
| ENST00000486124.5:n.1636+62G>T | ||
| ENST00000497706.5:c.721+62G>T | ENSP00000417482.1:n.721+62G>T | |
| NM_000063.5:c.1360+62G>T | NP_000054.2:n.1360+62G>T | |
| NM_001145903.2:c.964+62G>T | NP_001139375.1:n.964+62G>T | |
| NM_001178063.2:c.718+62G>T | NP_001171534.1:n.718+62G>T | |
| NM_001282457.1:c.622+62G>T | NP_001269386.1:n.622+62G>T | |
| NM_001282458.1:c.1273+62G>T | NP_001269387.1:n.1273+62G>T | |
| NM_000063.6:c.1360+62G>T MANE Select | NP_000054.2:n.1360+62G>T | |
| NM_001145903.3:c.964+62G>T | NP_001139375.1:n.964+62G>T | |
| NM_001282457.2:c.622+62G>T | NP_001269386.1:n.622+62G>T | |
| NM_001282458.2:c.1273+62G>T | NP_001269387.1:n.1273+62G>T | |
| NM_001178063.3:c.718+62G>T | NP_001171534.1:n.718+62G>T |