Linked Data
ClinVar Variation Id:
405843
dbSNP Id:
rs755463796
ExAC:
12:133249755 C / T
gnomAD v2:
12-133249755-C-T
gnomAD v3:
12-132673169-C-T
gnomAD v4:
12-132673169-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.132673169C>T , CM000674.2:g.132673169C>T | GRCh38 |
| NC_000012.11:g.133249755C>T , CM000674.1:g.133249755C>T | GRCh37 |
| NC_000012.10:g.131759828C>T | NCBI36 |
| NG_033840.1:g.19356G>A , LRG_789:g.19356G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539215.6:c.176G>A | ||
| ENST00000545015.2:n.1495G>A | ||
| ENST00000699982.1:c.1322G>A | ||
| ENST00000699983.1:c.1322G>A | ||
| ENST00000699984.1:c.1322G>A | ||
| ENST00000320574.10:c.1468G>A MANE Select | ENSP00000322570.5:p.Asp490Asn | |
| ENST00000672742.1:c.*970G>A | ENSP00000500279.1:n.*970G>A | |
| ENST00000320574.9:c.1468G>A | ENSP00000322570.5:p.Asp490Asn | |
| ENST00000535270.5:c.1387G>A | ENSP00000445753.1:p.Asp463Asn | |
| ENST00000535934.2:n.1343G>A | ||
| ENST00000537064.5:c.*515G>A | ENSP00000442578.1:n.*515G>A | |
| ENST00000539215.5:n.176G>A | ||
| ENST00000545015.1:n.65G>A | ||
| NM_006231.3:c.1468G>A , LRG_789t1:c.1468G>A | NP_006222.2:p.Asp490Asn | |
| XM_011534795.1:c.1468G>A | XP_011533097.1:p.Asp490Asn | |
| XM_011534796.1:c.1339G>A | XP_011533098.1:p.Asp447Asn | |
| XM_011534797.1:c.547G>A | XP_011533099.1:p.Asp183Asn | |
| XM_011534798.1:c.130G>A | XP_011533100.1:p.Asp44Asn | |
| XM_011534799.1:c.1468G>A | XP_011533101.1:p.Asp490Asn | |
| XM_011534800.1:c.1468G>A | XP_011533102.1:p.Asp490Asn | |
| XM_011534801.1:c.1468G>A | XP_011533103.1:p.Asp490Asn | |
| XR_941395.1:n.1677G>A | ||
| XM_011534795.3:c.1468G>A | XP_011533097.1:p.Asp490Asn | |
| XM_011534797.3:c.547G>A | XP_011533099.1:p.Asp183Asn | |
| XM_011534799.2:c.1468G>A | XP_011533101.1:p.Asp490Asn | |
| XR_002957338.1:n.1672G>A | ||
| XR_002957339.1:n.1672G>A | ||
| XR_941395.2:n.1672G>A | ||
| NM_006231.4:c.1468G>A MANE Select | NP_006222.2:p.Asp490Asn |