Linked Data
ClinVar Variation Id:
579761
dbSNP Id:
rs143013773
ExAC:
5:131721178 G / A
gnomAD v2:
5-131721178-G-A
gnomAD v3:
5-132385486-G-A
gnomAD v4:
5-132385486-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132385486G>A , CM000667.2:g.132385486G>A | GRCh38 |
| NC_000005.9:g.131721178G>A , CM000667.1:g.131721178G>A | GRCh37 |
| NC_000005.8:g.131749077G>A | NCBI36 |
| NG_008982.1:g.20778G>A | |
| NG_008982.2:g.20783G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.665+1172G>A | ENSP00000388838.2:n.665+1172G>A | |
| ENST00000435065.7:c.883G>A | ENSP00000402760.2:p.Val295Met | |
| ENST00000448810.6:c.811G>A | ENSP00000401860.2:p.Val271Met | |
| ENST00000686757.1:c.830G>A | ENSP00000510721.1:p.Arg277His | |
| ENST00000687740.1:n.1971G>A | ||
| ENST00000688151.1:n.2003G>A | ||
| ENST00000689271.1:c.671+1166G>A | ENSP00000510797.1:n.671+1166G>A | |
| ENST00000690900.1:c.782G>A | ENSP00000510703.1:p.Arg261His | |
| ENST00000692212.1:n.637G>A | ||
| ENST00000692355.1:c.204+1185G>A | ||
| ENST00000692413.1:c.830G>A | ENSP00000509374.1:p.Arg277His | |
| ENST00000692825.1:c.879G>A | ENSP00000509447.1:n.879G>A | |
| ENST00000693308.1:c.824G>A | ENSP00000509770.1:p.Arg275His | |
| ENST00000693763.1:n.1971G>A | ||
| ENST00000245407.8:c.811G>A MANE Select | ENSP00000245407.3:p.Val271Met | |
| ENST00000245407.7:c.811G>A | ENSP00000245407.3:p.Val271Met | |
| ENST00000415928.5:c.580G>A | ENSP00000388838.1:p.Val194Met | |
| ENST00000435065.6:c.883G>A | ENSP00000402760.2:p.Val295Met | |
| ENST00000437841.6:c.*126G>A | ENSP00000400553.1:n.*126G>A | |
| ENST00000448810.5:c.159G>A | ||
| ENST00000461013.5:n.8233G>A | ||
| NM_001308122.1:c.883G>A | NP_001295051.1:p.Val295Met | |
| NM_003060.3:c.811G>A | NP_003051.1:p.Val271Met | |
| XM_011543590.1:c.193G>A | XP_011541892.1:p.Val65Met | |
| XR_427718.1:n.1171G>A | ||
| XR_948290.1:n.1152G>A | ||
| XR_948291.1:n.1165G>A | ||
| XM_011543590.2:c.193G>A | XP_011541892.1:p.Val65Met | |
| XM_017009778.2:c.283G>A | XP_016865267.1:p.Val95Met | |
| XR_001742215.1:n.1152G>A | ||
| XR_001742216.1:n.1171G>A | ||
| XR_427718.2:n.1171G>A | ||
| XR_948290.2:n.1152G>A | ||
| XR_948291.2:n.1165G>A | ||
| NM_003060.4:c.811G>A MANE Select | NP_003051.1:p.Val271Met | |
| NM_001308122.2:c.883G>A | NP_001295051.1:p.Val295Met |