Linked Data
ClinVar Variation Id:
204831
dbSNP Id:
rs555896752
ExAC:
5:125912814 A / C
gnomAD v2:
5-125912814-A-C
gnomAD v3:
5-126577122-A-C
gnomAD v4:
5-126577122-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126577122A>C , CM000667.2:g.126577122A>C | GRCh38 |
| NC_000005.9:g.125912814A>C , CM000667.1:g.125912814A>C | GRCh37 |
| NC_000005.8:g.125940713A>C | NCBI36 |
| NG_008600.2:g.23269T>G | |
| NG_008600.3:g.23269T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.607T>G MANE Select | ENSP00000387123.3:p.Trp203Gly | |
| ENST00000412186.2:c.483T>G | ENSP00000414536.2:n.483T>G | |
| ENST00000413020.6:c.607T>G | ENSP00000487936.1:p.Trp203Gly | |
| ENST00000458249.6:c.*516T>G | ENSP00000403929.1:n.*516T>G | |
| ENST00000503281.6:c.196T>G | ||
| ENST00000509270.2:c.541T>G | ENSP00000449318.2:p.Trp181Gly | |
| ENST00000509459.6:c.155T>G | ||
| ENST00000511266.6:n.1329T>G | ||
| ENST00000635851.1:c.605T>G | ||
| ENST00000636062.1:n.502T>G | ||
| ENST00000636225.1:c.*416T>G | ENSP00000490797.1:n.*416T>G | |
| ENST00000636286.1:n.325T>G | ||
| ENST00000636743.1:c.487T>G | ENSP00000489725.1:p.Trp163Gly | |
| ENST00000636808.1:c.*416T>G | ENSP00000490833.1:n.*416T>G | |
| ENST00000636872.1:c.767T>G | ENSP00000490919.1:n.767T>G | |
| ENST00000636879.1:c.652T>G | ENSP00000490811.1:p.Trp218Gly | |
| ENST00000636886.1:c.406T>G | ENSP00000490371.1:p.Trp136Gly | |
| ENST00000637206.1:c.607T>G | ENSP00000489895.1:p.Trp203Gly | |
| ENST00000637272.1:c.607T>G | ENSP00000489686.1:p.Trp203Gly | |
| ENST00000637292.1:c.260T>G | ||
| ENST00000637782.1:c.607T>G | ENSP00000490024.1:p.Trp203Gly | |
| ENST00000637964.1:c.553T>G | ENSP00000490291.1:p.Trp185Gly | |
| ENST00000638008.1:c.*549T>G | ENSP00000490400.1:n.*549T>G | |
| ENST00000409134.7:c.607T>G | ENSP00000387123.3:p.Trp203Gly | |
| ENST00000413020.5:c.607T>G | ENSP00000487936.1:p.Trp203Gly | |
| ENST00000433026.5:n.134T>G | ||
| ENST00000447989.6:c.688T>G | ENSP00000414132.2:p.Trp230Gly | |
| ENST00000458249.5:c.767T>G | ENSP00000403929.1:n.767T>G | |
| ENST00000503281.5:c.196T>G | ||
| ENST00000509459.5:c.155T>G | ||
| ENST00000510111.6:c.520T>G | ENSP00000447388.1:p.Trp174Gly | |
| ENST00000511266.5:n.438T>G | ||
| ENST00000553117.5:c.607T>G | ENSP00000448593.1:p.Trp203Gly | |
| NM_001182.4:c.607T>G | NP_001173.2:p.Trp203Gly | |
| NM_001201377.1:c.523T>G | NP_001188306.1:p.Trp175Gly | |
| NM_001202404.1:c.688T>G | NP_001189333.1:p.Trp230Gly | |
| XM_011543417.1:c.202T>G | XP_011541719.1:p.Trp68Gly | |
| XM_011543417.2:c.202T>G | XP_011541719.1:p.Trp68Gly | |
| NM_001182.5:c.607T>G MANE Select | NP_001173.2:p.Trp203Gly | |
| NM_001201377.2:c.523T>G | NP_001188306.1:p.Trp175Gly | |
| NM_001202404.2:c.607T>G | NP_001189333.2:p.Trp203Gly |