Linked Data
ClinVar Variation Id:
25381
dbSNP Id:
rs386134200
gnomAD v2:
5-131719994-G-A
gnomAD v4:
5-132384302-G-A
PubMed:
PMID:12210323
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132384302G>A , CM000667.2:g.132384302G>A | GRCh38 |
| NC_000005.9:g.131719994G>A , CM000667.1:g.131719994G>A | GRCh37 |
| NC_000005.8:g.131747893G>A | NCBI36 |
| NG_008982.1:g.19594G>A | |
| NG_008982.2:g.19599G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.653G>A | ENSP00000388838.2:p.Gly218Asp | |
| ENST00000435065.7:c.724+1G>A | ENSP00000402760.2:n.724+1G>A | |
| ENST00000448810.6:c.652+1G>A | ENSP00000401860.2:n.652+1G>A | |
| ENST00000686757.1:c.653G>A | ENSP00000510721.1:p.Gly218Asp | |
| ENST00000687740.1:n.787G>A | ||
| ENST00000688151.1:n.1832G>A | ||
| ENST00000689271.1:c.653G>A | ENSP00000510797.1:p.Gly218Asp | |
| ENST00000690900.1:c.653G>A | ENSP00000510703.1:p.Gly218Asp | |
| ENST00000692355.1:c.204+1G>A | ||
| ENST00000692413.1:c.653G>A | ENSP00000509374.1:p.Gly218Asp | |
| ENST00000692825.1:c.720+1G>A | ENSP00000509447.1:n.720+1G>A | |
| ENST00000693308.1:c.653G>A | ENSP00000509770.1:p.Gly218Asp | |
| ENST00000693763.1:n.787G>A | ||
| ENST00000245407.8:c.652+1G>A MANE Select | ENSP00000245407.3:n.652+1G>A | |
| ENST00000245407.7:c.652+1G>A | ENSP00000245407.3:n.652+1G>A | |
| ENST00000415928.5:c.421+1G>A | ENSP00000388838.1:n.421+1G>A | |
| ENST00000435065.6:c.724+1G>A | ENSP00000402760.2:n.724+1G>A | |
| ENST00000437841.6:c.394-1026G>A | ENSP00000400553.1:n.394-1026G>A | |
| ENST00000461013.5:n.8074+1G>A | ||
| NM_001308122.1:c.724+1G>A | NP_001295051.1:n.724+1G>A | |
| NM_003060.3:c.652+1G>A | NP_003051.1:n.652+1G>A | |
| XM_011543590.1:c.22G>A | XP_011541892.1:p.Val8Ile | |
| XR_427718.1:n.994G>A | ||
| XR_948290.1:n.993+1G>A | ||
| XR_948291.1:n.994G>A | ||
| XM_011543590.2:c.22G>A | XP_011541892.1:p.Val8Ile | |
| XM_017009778.2:c.124+1G>A | XP_016865267.1:n.124+1G>A | |
| XR_001742215.1:n.993+1G>A | ||
| XR_001742216.1:n.994G>A | ||
| XR_427718.2:n.994G>A | ||
| XR_948290.2:n.993+1G>A | ||
| XR_948291.2:n.994G>A | ||
| NM_003060.4:c.652+1G>A MANE Select | NP_003051.1:n.652+1G>A | |
| NM_001308122.2:c.724+1G>A | NP_001295051.1:n.724+1G>A |