Linked Data
ClinVar Variation Id:
1146786
ClinVar RCV Id:
RCV001486113
dbSNP Id:
rs375679167
ExAC:
5:131726469 G / A
gnomAD v2:
5-131726469-G-A
gnomAD v3:
5-132390777-G-A
gnomAD v4:
5-132390777-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132390777G>A , CM000667.2:g.132390777G>A | GRCh38 |
| NC_000005.9:g.131726469G>A , CM000667.1:g.131726469G>A | GRCh37 |
| NC_000005.8:g.131754368G>A | NCBI36 |
| NG_008982.1:g.26069G>A | |
| NG_008982.2:g.26074G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.981G>A | ENSP00000388838.2:p.Ala327= | |
| ENST00000435065.7:c.1212G>A | ENSP00000402760.2:p.Ala404= | |
| ENST00000448810.6:c.1054G>A | ENSP00000401860.2:p.Asp352Asn | |
| ENST00000685543.1:n.1281G>A | ||
| ENST00000686757.1:c.*304G>A | ENSP00000510721.1:n.*304G>A | |
| ENST00000687740.1:n.3825G>A | ||
| ENST00000688151.1:n.2450G>A | ||
| ENST00000689271.1:c.987G>A | ENSP00000510797.1:p.Ala329= | |
| ENST00000690900.1:c.*304G>A | ENSP00000510703.1:n.*304G>A | |
| ENST00000692212.1:n.2752G>A | ||
| ENST00000692355.1:c.393G>A | ||
| ENST00000692413.1:c.1122G>A | ENSP00000509374.1:p.Ala374= | |
| ENST00000692825.1:c.1208G>A | ENSP00000509447.1:n.1208G>A | |
| ENST00000693308.1:c.1188G>A | ENSP00000509770.1:p.Ala396= | |
| ENST00000693763.1:n.2300G>A | ||
| ENST00000245407.8:c.1140G>A MANE Select | ENSP00000245407.3:p.Ala380= | |
| ENST00000245407.7:c.1140G>A | ENSP00000245407.3:p.Ala380= | |
| ENST00000435065.6:c.1212G>A | ENSP00000402760.2:p.Ala404= | |
| ENST00000447841.5:c.112-1656G>A | ||
| ENST00000448810.5:c.402G>A | ||
| ENST00000461013.5:n.8562G>A | ||
| ENST00000475308.1:n.1818G>A | ||
| ENST00000479605.5:n.243G>A | ||
| NM_001308122.1:c.1212G>A | NP_001295051.1:p.Ala404= | |
| NM_003060.3:c.1140G>A | NP_003051.1:p.Ala380= | |
| XM_011543590.1:c.522G>A | XP_011541892.1:p.Ala174= | |
| XR_427718.1:n.1500G>A | ||
| XR_948290.1:n.1394-1656G>A | ||
| XR_948291.1:n.1494G>A | ||
| XM_011543590.2:c.522G>A | XP_011541892.1:p.Ala174= | |
| XM_017009778.2:c.612G>A | XP_016865267.1:p.Ala204= | |
| XR_001742215.1:n.1395G>A | ||
| XR_001742216.1:n.1414G>A | ||
| XR_427718.2:n.1500G>A | ||
| XR_948290.2:n.1394-1656G>A | ||
| XR_948291.2:n.1494G>A | ||
| NM_003060.4:c.1140G>A MANE Select | NP_003051.1:p.Ala380= | |
| NM_001308122.2:c.1212G>A | NP_001295051.1:p.Ala404= |