Linked Data
ClinVar Variation Id:
6411
ClinVar RCV Id:
RCV000006780
dbSNP Id:
rs72552727
ExAC:
5:131714072 G / A
gnomAD v2:
5-131714072-G-A
gnomAD v4:
5-132378380-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132378380G>A , CM000667.2:g.132378380G>A | GRCh38 |
| NC_000005.9:g.131714072G>A , CM000667.1:g.131714072G>A | GRCh37 |
| NC_000005.8:g.131741971G>A | NCBI36 |
| NG_008982.1:g.13672G>A | |
| NG_008982.2:g.13677G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000415928.6:c.396G>A | ENSP00000388838.2:p.Trp132Ter | |
| ENST00000435065.7:c.468G>A | ENSP00000402760.2:p.Trp156Ter | |
| ENST00000448810.6:c.396G>A | ENSP00000401860.2:p.Trp132Ter | |
| ENST00000686757.1:c.396G>A | ENSP00000510721.1:p.Trp132Ter | |
| ENST00000687740.1:n.530G>A | ||
| ENST00000689271.1:c.396G>A | ENSP00000510797.1:p.Trp132Ter | |
| ENST00000690900.1:c.396G>A | ENSP00000510703.1:p.Trp132Ter | |
| ENST00000692413.1:c.396G>A | ENSP00000509374.1:p.Trp132Ter | |
| ENST00000692825.1:c.464G>A | ENSP00000509447.1:n.464G>A | |
| ENST00000693308.1:c.396G>A | ENSP00000509770.1:p.Trp132Ter | |
| ENST00000693763.1:n.530G>A | ||
| ENST00000245407.8:c.396G>A MANE Select | ENSP00000245407.3:p.Trp132Ter | |
| ENST00000245407.7:c.396G>A | ENSP00000245407.3:p.Trp132Ter | |
| ENST00000415928.5:c.165G>A | ENSP00000388838.1:p.Trp55Ter | |
| ENST00000435065.6:c.468G>A | ENSP00000402760.2:p.Trp156Ter | |
| ENST00000437841.6:c.394-6948G>A | ENSP00000400553.1:n.394-6948G>A | |
| ENST00000461013.5:n.2153G>A | ||
| NM_001308122.1:c.468G>A | NP_001295051.1:p.Trp156Ter | |
| NM_003060.3:c.396G>A | NP_003051.1:p.Trp132Ter | |
| XR_427718.1:n.737G>A | ||
| XR_948290.1:n.737G>A | ||
| XR_948291.1:n.737G>A | ||
| XM_011543590.2:c.-236G>A | XP_011541892.1:n.-236G>A | |
| XM_017009778.2:c.-31-5767G>A | XP_016865267.1:n.-31-5767G>A | |
| XR_001742215.1:n.737G>A | ||
| XR_001742216.1:n.737G>A | ||
| XR_427718.2:n.737G>A | ||
| XR_948290.2:n.737G>A | ||
| XR_948291.2:n.737G>A | ||
| NM_003060.4:c.396G>A MANE Select | NP_003051.1:p.Trp132Ter | |
| NM_001308122.2:c.468G>A | NP_001295051.1:p.Trp156Ter |