Linked Data
ClinVar Variation Id:
179026
ClinVar RCV Id:
RCV000155807
RCV000172581
RCV000528781
RCV000577930
RCV000577936
RCV000578052
RCV000577994
RCV000578088
RCV000619186
RCV000771870
dbSNP Id:
rs149930872
ExAC:
12:32996158 G / A
gnomAD v2:
12-32996158-G-A
gnomAD v3:
12-32843224-G-A
gnomAD v4:
12-32843224-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32843224G>A , CM000674.2:g.32843224G>A | GRCh38 |
| NC_000012.11:g.32996158G>A , CM000674.1:g.32996158G>A | GRCh37 |
| NC_000012.10:g.32887425G>A | NCBI36 |
| NG_009000.1:g.58623C>T , LRG_398:g.58623C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700559.2:c.1379-2019C>T | ENSP00000515065.2:n.1379-2019C>T | |
| ENST00000700563.2:c.1379-2019C>T | ENSP00000515066.2:n.1379-2019C>T | |
| ENST00000700559.1:c.594-2019C>T | ||
| ENST00000700560.1:n.594-2019C>T | ||
| ENST00000700561.1:n.720-2019C>T | ||
| ENST00000700563.1:c.1333-2019C>T | ||
| ENST00000700564.1:n.1383-2019C>T | ||
| ENST00000700565.1:n.1232-2019C>T | ||
| ENST00000070846.11:c.1468C>T | ENSP00000070846.6:p.Arg490Trp | |
| ENST00000340811.9:c.1379-2019C>T MANE Select | ENSP00000342800.5:n.1379-2019C>T | |
| ENST00000070846.10:c.1468C>T | ENSP00000070846.6:p.Arg490Trp | |
| ENST00000340811.8:c.1379-2019C>T | ENSP00000342800.4:n.1379-2019C>T | |
| ENST00000613243.1:c.1468C>T | ENSP00000478295.1:p.Arg490Trp | |
| NM_001005242.2:c.1379-2019C>T | NP_001005242.2:n.1379-2019C>T | |
| NM_004572.3:c.1468C>T , LRG_398t1:c.1468C>T | NP_004563.2:p.Arg490Trp | |
| NM_001005242.3:c.1379-2019C>T MANE Select | NP_001005242.2:n.1379-2019C>T | |
| NM_004572.4:c.1468C>T | NP_004563.2:p.Arg490Trp |