Linked Data
ClinVar Variation Id:
204830
dbSNP Id:
rs61757685
ExAC:
5:125912868 C / T
gnomAD v2:
5-125912868-C-T
gnomAD v3:
5-126577176-C-T
gnomAD v4:
5-126577176-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126577176C>T , CM000667.2:g.126577176C>T | GRCh38 |
| NC_000005.9:g.125912868C>T , CM000667.1:g.125912868C>T | GRCh37 |
| NC_000005.8:g.125940767C>T | NCBI36 |
| NG_008600.2:g.23215G>A | |
| NG_008600.3:g.23215G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.553G>A MANE Select | ENSP00000387123.3:p.Val185Ile | |
| ENST00000412186.2:c.429G>A | ENSP00000414536.2:n.429G>A | |
| ENST00000413020.6:c.553G>A | ENSP00000487936.1:p.Val185Ile | |
| ENST00000458249.6:c.*462G>A | ENSP00000403929.1:n.*462G>A | |
| ENST00000503281.6:c.142G>A | ||
| ENST00000509270.2:c.487G>A | ENSP00000449318.2:p.Val163Ile | |
| ENST00000509459.6:c.101G>A | ||
| ENST00000511266.6:n.1275G>A | ||
| ENST00000635851.1:c.551G>A | ||
| ENST00000636062.1:n.448G>A | ||
| ENST00000636225.1:c.*362G>A | ENSP00000490797.1:n.*362G>A | |
| ENST00000636286.1:n.271G>A | ||
| ENST00000636743.1:c.433G>A | ENSP00000489725.1:p.Val145Ile | |
| ENST00000636808.1:c.*362G>A | ENSP00000490833.1:n.*362G>A | |
| ENST00000636872.1:c.713G>A | ENSP00000490919.1:n.713G>A | |
| ENST00000636879.1:c.598G>A | ENSP00000490811.1:p.Val200Ile | |
| ENST00000636886.1:c.352G>A | ENSP00000490371.1:p.Val118Ile | |
| ENST00000637206.1:c.553G>A | ENSP00000489895.1:p.Val185Ile | |
| ENST00000637272.1:c.553G>A | ENSP00000489686.1:p.Val185Ile | |
| ENST00000637292.1:c.206G>A | ||
| ENST00000637782.1:c.553G>A | ENSP00000490024.1:p.Val185Ile | |
| ENST00000637964.1:c.499G>A | ENSP00000490291.1:p.Val167Ile | |
| ENST00000638008.1:c.*495G>A | ENSP00000490400.1:n.*495G>A | |
| ENST00000409134.7:c.553G>A | ENSP00000387123.3:p.Val185Ile | |
| ENST00000413020.5:c.553G>A | ENSP00000487936.1:p.Val185Ile | |
| ENST00000433026.5:n.80G>A | ||
| ENST00000447989.6:c.634G>A | ENSP00000414132.2:p.Val212Ile | |
| ENST00000458249.5:c.713G>A | ENSP00000403929.1:n.713G>A | |
| ENST00000503281.5:c.142G>A | ||
| ENST00000509459.5:c.101G>A | ||
| ENST00000510111.6:c.466G>A | ENSP00000447388.1:p.Val156Ile | |
| ENST00000511266.5:n.384G>A | ||
| ENST00000553117.5:c.553G>A | ENSP00000448593.1:p.Val185Ile | |
| NM_001182.4:c.553G>A | NP_001173.2:p.Val185Ile | |
| NM_001201377.1:c.469G>A | NP_001188306.1:p.Val157Ile | |
| NM_001202404.1:c.634G>A | NP_001189333.1:p.Val212Ile | |
| XM_011543417.1:c.148G>A | XP_011541719.1:p.Val50Ile | |
| XM_011543417.2:c.148G>A | XP_011541719.1:p.Val50Ile | |
| NM_001182.5:c.553G>A MANE Select | NP_001173.2:p.Val185Ile | |
| NM_001201377.2:c.469G>A | NP_001188306.1:p.Val157Ile | |
| NM_001202404.2:c.553G>A | NP_001189333.2:p.Val185Ile |