Linked Data
ClinVar Variation Id:
1581493
ClinVar RCV Id:
RCV002110948
dbSNP Id:
rs1040463991
gnomAD v2:
6-31903723-G-T
gnomAD v3:
6-31935946-G-T
gnomAD v4:
6-31935946-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31935946G>T , CM000668.2:g.31935946G>T | GRCh38 |
| NC_000006.11:g.31903723G>T , CM000668.1:g.31903723G>T | GRCh37 |
| NC_000006.10:g.32011702G>T | NCBI36 |
| NG_011730.1:g.13458G>T , LRG_26:g.13458G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447952.7:c.687G>T (C2) | ENSP00000391354.3:p.Val229= | |
| ENST00000452323.7:c.347-1373G>T (C2) | ENSP00000392322.2:n.347-1373G>T | |
| ENST00000468407.2:c.873G>T (C2) | ENSP00000512075.1:p.Val291= | |
| ENST00000497706.6:c.234G>T (C2) | ENSP00000417482.2:p.Val78= | |
| ENST00000695637.1:c.468G>T (C2) | ENSP00000512074.1:p.Val156= | |
| ENST00000695638.1:c.873G>T (C2) | ENSP00000512076.1:p.Val291= | |
| ENST00000695644.1:c.477G>T (C2) | ENSP00000512079.1:p.Val159= | |
| ENST00000299367.10:c.873G>T (C2) MANE Select | ENSP00000299367.5:p.Val291= | |
| ENST00000299367.9:c.873G>T (C2) | ENSP00000299367.5:p.Val291= | |
| ENST00000383177.7:c.310-1373G>T (C2) | ||
| ENST00000411571.6:c.*113G>T (C2) | ENSP00000388727.2:n.*113G>T | |
| ENST00000442278.6:c.477G>T (C2) | ENSP00000395683.2:p.Val159= | |
| ENST00000452323.6:c.347-1373G>T (C2) | ENSP00000392322.2:n.347-1373G>T | |
| ENST00000456570.5:c.530-1373G>T | ENSP00000410815.1:n.530-1373G>T | |
| ENST00000469372.5:c.135G>T (C2) | ENSP00000418923.1:p.Val45= | |
| ENST00000477310.1:c.443-1373G>T | ENSP00000418996.1:n.443-1373G>T | |
| ENST00000482060.5:c.*586G>T (C2) | ENSP00000418332.1:n.*586G>T | |
| ENST00000484636.1:c.*113G>T (C2) | ENSP00000420305.1:n.*113G>T | |
| ENST00000485690.5:c.41G>T (C2) | ||
| ENST00000497706.5:c.234G>T (C2) | ENSP00000417482.1:p.Val78= | |
| NM_000063.5:c.873G>T (C2) | NP_000054.2:p.Val291= | |
| NM_001145903.2:c.477G>T (C2) | NP_001139375.1:p.Val159= | |
| NM_001178063.2:c.347-1373G>T (C2) | NP_001171534.1:n.347-1373G>T | |
| NM_001282457.1:c.135G>T (C2) | NP_001269386.1:p.Val45= | |
| NM_001282458.1:c.786G>T (C2) | NP_001269387.1:p.Val262= | |
| NR_104191.1:n.541-544C>A (C2-AS1) | ||
| NM_000063.6:c.873G>T (C2) MANE Select | NP_000054.2:p.Val291= | |
| NM_001145903.3:c.477G>T (C2) | NP_001139375.1:p.Val159= | |
| NM_001282457.2:c.135G>T (C2) | NP_001269386.1:p.Val45= | |
| NM_001282458.2:c.786G>T (C2) | NP_001269387.1:p.Val262= | |
| NM_001178063.3:c.347-1373G>T (C2) | NP_001171534.1:n.347-1373G>T |