Linked Data
ClinVar Variation Id:
134548
dbSNP Id:
rs202021264
ExAC:
1:65348981 T / C
gnomAD v2:
1-65348981-T-C
gnomAD v3:
1-64883298-T-C
gnomAD v4:
1-64883298-T-C
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.64883298T>C , CM000663.2:g.64883298T>C | GRCh38 |
| NC_000001.10:g.65348981T>C , CM000663.1:g.65348981T>C | GRCh37 |
| NC_000001.9:g.65121569T>C | NCBI36 |
| NG_023402.1:g.88207A>G | |
| NG_023402.2:g.189449A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000671746.2:c.184A>G | ENSP00000500065.1:p.Ile62Val | |
| ENST00000671929.2:c.184A>G | ENSP00000500485.1:p.Ile62Val | |
| ENST00000671954.2:c.184A>G | ENSP00000500841.1:p.Ile62Val | |
| ENST00000672179.2:c.184A>G | ENSP00000500296.1:p.Ile62Val | |
| ENST00000672247.2:c.184A>G | ENSP00000499884.1:p.Ile62Val | |
| ENST00000672434.2:c.184A>G | ENSP00000499900.1:p.Ile62Val | |
| ENST00000672574.2:c.184A>G | ENSP00000500714.2:p.Ile62Val | |
| ENST00000672751.2:c.184A>G | ENSP00000500745.2:p.Ile62Val | |
| ENST00000673246.2:c.184A>G | ENSP00000499942.2:p.Ile62Val | |
| ENST00000673314.2:n.493A>G | ||
| ENST00000673502.2:n.635A>G | ||
| ENST00000699259.1:c.184A>G | ENSP00000514240.1:p.Ile62Val | |
| ENST00000699260.1:c.184A>G | ENSP00000514241.1:p.Ile62Val | |
| ENST00000699261.1:c.184A>G | ENSP00000514242.1:p.Ile62Val | |
| ENST00000699262.1:c.184A>G | ENSP00000514243.1:p.Ile62Val | |
| ENST00000699263.1:c.184A>G | ENSP00000514244.1:p.Ile62Val | |
| ENST00000699310.1:c.184A>G | ENSP00000514289.1:p.Ile62Val | |
| ENST00000699311.1:c.184A>G | ENSP00000514290.1:p.Ile62Val | |
| ENST00000699312.1:c.184A>G | ENSP00000514291.1:p.Ile62Val | |
| ENST00000699313.1:c.184A>G | ENSP00000514292.1:p.Ile62Val | |
| ENST00000699314.1:c.184A>G | ENSP00000514294.1:p.Ile62Val | |
| ENST00000342505.5:c.184A>G MANE Select | ENSP00000343204.4:p.Ile62Val | |
| ENST00000671746.1:c.184A>G | ENSP00000500065.1:p.Ile62Val | |
| ENST00000671929.1:c.184A>G | ENSP00000500485.1:p.Ile62Val | |
| ENST00000671954.1:c.184A>G | ENSP00000500841.1:p.Ile62Val | |
| ENST00000672099.1:c.184A>G | ENSP00000500328.1:p.Ile62Val | |
| ENST00000672179.1:c.184A>G | ENSP00000500296.1:p.Ile62Val | |
| ENST00000672247.1:c.184A>G | ENSP00000499884.1:p.Ile62Val | |
| ENST00000672434.1:c.184A>G | ENSP00000499900.1:p.Ile62Val | |
| ENST00000672751.1:c.184A>G | ENSP00000500745.1:p.Ile62Val | |
| ENST00000673046.1:c.184A>G | ENSP00000500878.1:p.Ile62Val | |
| ENST00000673220.1:c.184A>G | ENSP00000500422.1:p.Ile62Val | |
| ENST00000673254.1:c.184A>G | ENSP00000500476.1:p.Ile62Val | |
| ENST00000673314.1:n.290A>G | ||
| ENST00000673502.1:c.184A>G | ENSP00000500011.1:p.Ile62Val | |
| ENST00000342505.4:c.184A>G | ENSP00000343204.4:p.Ile62Val | |
| NM_002227.2:c.184A>G | NP_002218.2:p.Ile62Val | |
| XM_005270841.1:c.184A>G | XP_005270898.1:p.Ile62Val | |
| XM_006710624.1:c.184A>G | XP_006710687.1:p.Ile62Val | |
| XM_011541395.1:c.184A>G | XP_011539697.1:p.Ile62Val | |
| NM_001320923.1:c.184A>G | NP_001307852.1:p.Ile62Val | |
| NM_001321852.1:c.184A>G | NP_001308781.1:p.Ile62Val | |
| NM_001321853.1:c.184A>G | NP_001308782.1:p.Ile62Val | |
| NM_001321854.1:c.184A>G | NP_001308783.1:p.Ile62Val | |
| NM_001321855.1:c.184A>G | NP_001308784.1:p.Ile62Val | |
| NM_001321856.1:c.184A>G | NP_001308785.1:p.Ile62Val | |
| NM_001321857.1:c.184A>G | NP_001308786.1:p.Ile62Val | |
| NM_002227.3:c.184A>G | NP_002218.2:p.Ile62Val | |
| NM_002227.4:c.184A>G MANE Select | NP_002218.2:p.Ile62Val | |
| NM_001321852.2:c.184A>G | NP_001308781.1:p.Ile62Val | |
| NM_001321853.2:c.184A>G | NP_001308782.1:p.Ile62Val | |
| NM_001321854.2:c.184A>G | NP_001308783.1:p.Ile62Val | |
| NM_001321855.2:c.184A>G | NP_001308784.1:p.Ile62Val | |
| NM_001321857.2:c.184A>G | NP_001308786.1:p.Ile62Val | |
| NM_001320923.2:c.184A>G | NP_001307852.1:p.Ile62Val | |
| NM_001321856.2:c.184A>G | NP_001308785.1:p.Ile62Val |