Linked Data
ClinVar Variation Id:
265032
dbSNP Id:
rs140102105
ExAC:
5:125912892 C / G
gnomAD v2:
5-125912892-C-G
gnomAD v3:
5-126577200-C-G
gnomAD v4:
5-126577200-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126577200C>G , CM000667.2:g.126577200C>G | GRCh38 |
| NC_000005.9:g.125912892C>G , CM000667.1:g.125912892C>G | GRCh37 |
| NC_000005.8:g.125940791C>G | NCBI36 |
| NG_008600.2:g.23191G>C | |
| NG_008600.3:g.23191G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409134.8:c.529G>C MANE Select | ENSP00000387123.3:p.Ala177Pro | |
| ENST00000412186.2:c.405G>C | ENSP00000414536.2:p.Met135Ile | |
| ENST00000413020.6:c.529G>C | ENSP00000487936.1:p.Ala177Pro | |
| ENST00000458249.6:c.*438G>C | ENSP00000403929.1:n.*438G>C | |
| ENST00000503281.6:c.118G>C | ||
| ENST00000509270.2:c.463G>C | ENSP00000449318.2:p.Ala155Pro | |
| ENST00000509459.6:c.77G>C | ||
| ENST00000511266.6:n.1251G>C | ||
| ENST00000635851.1:c.527G>C | ||
| ENST00000636062.1:n.424G>C | ||
| ENST00000636225.1:c.*338G>C | ENSP00000490797.1:n.*338G>C | |
| ENST00000636286.1:n.247G>C | ||
| ENST00000636743.1:c.409G>C | ENSP00000489725.1:p.Ala137Pro | |
| ENST00000636808.1:c.*338G>C | ENSP00000490833.1:n.*338G>C | |
| ENST00000636872.1:c.689G>C | ENSP00000490919.1:n.689G>C | |
| ENST00000636879.1:c.574G>C | ENSP00000490811.1:p.Ala192Pro | |
| ENST00000636886.1:c.328G>C | ENSP00000490371.1:p.Ala110Pro | |
| ENST00000637206.1:c.529G>C | ENSP00000489895.1:p.Ala177Pro | |
| ENST00000637272.1:c.529G>C | ENSP00000489686.1:p.Ala177Pro | |
| ENST00000637292.1:c.182G>C | ||
| ENST00000637782.1:c.529G>C | ENSP00000490024.1:p.Ala177Pro | |
| ENST00000637964.1:c.475G>C | ENSP00000490291.1:p.Ala159Pro | |
| ENST00000638008.1:c.*471G>C | ENSP00000490400.1:n.*471G>C | |
| ENST00000409134.7:c.529G>C | ENSP00000387123.3:p.Ala177Pro | |
| ENST00000413020.5:c.529G>C | ENSP00000487936.1:p.Ala177Pro | |
| ENST00000433026.5:n.56G>C | ||
| ENST00000447989.6:c.610G>C | ENSP00000414132.2:p.Ala204Pro | |
| ENST00000458249.5:c.689G>C | ENSP00000403929.1:n.689G>C | |
| ENST00000503281.5:c.118G>C | ||
| ENST00000509270.1:c.409G>C | ENSP00000449318.1:p.Ala137Pro | |
| ENST00000509459.5:c.77G>C | ||
| ENST00000510111.6:c.442G>C | ENSP00000447388.1:p.Ala148Pro | |
| ENST00000511266.5:n.360G>C | ||
| ENST00000553117.5:c.529G>C | ENSP00000448593.1:p.Ala177Pro | |
| NM_001182.4:c.529G>C | NP_001173.2:p.Ala177Pro | |
| NM_001201377.1:c.445G>C | NP_001188306.1:p.Ala149Pro | |
| NM_001202404.1:c.610G>C | NP_001189333.1:p.Ala204Pro | |
| XM_011543417.1:c.124G>C | XP_011541719.1:p.Ala42Pro | |
| XM_011543417.2:c.124G>C | XP_011541719.1:p.Ala42Pro | |
| NM_001182.5:c.529G>C MANE Select | NP_001173.2:p.Ala177Pro | |
| NM_001201377.2:c.445G>C | NP_001188306.1:p.Ala149Pro | |
| NM_001202404.2:c.529G>C | NP_001189333.2:p.Ala177Pro |