Linked Data
ClinVar Variation Id:
94353
dbSNP Id:
rs150834671
ExAC:
2:71909742 A / G
gnomAD v2:
2-71909742-A-G
gnomAD v3:
2-71682612-A-G
gnomAD v4:
2-71682612-A-G
PubMed:
PMID:23757202
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71682612A>G , CM000664.2:g.71682612A>G | GRCh38 |
| NC_000002.11:g.71909742A>G , CM000664.1:g.71909742A>G | GRCh37 |
| NC_000002.10:g.71763250A>G | NCBI36 |
| NG_008694.1:g.233990A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698057.1:c.3670A>G | ENSP00000513536.1:p.Ile1224Val | |
| ENST00000698058.1:c.2887A>G | ENSP00000513537.1:p.Ile963Val | |
| ENST00000698059.1:c.2995A>G | ENSP00000513538.1:p.Ile999Val | |
| ENST00000258104.8:c.6139A>G MANE Plus Clinical | ENSP00000258104.3:p.Ile2047Val | |
| ENST00000410020.8:c.6256A>G MANE Select | ENSP00000386881.3:p.Ile2086Val | |
| ENST00000258104.7:c.6139A>G | ENSP00000258104.3:p.Ile2047Val | |
| ENST00000394120.6:c.6142A>G | ENSP00000377678.2:p.Ile2048Val | |
| ENST00000409366.5:c.6205A>G | ENSP00000386512.1:p.Ile2069Val | |
| ENST00000409582.7:c.6253A>G | ENSP00000386547.3:p.Ile2085Val | |
| ENST00000409651.5:c.6235A>G | ENSP00000386683.1:p.Ile2079Val | |
| ENST00000409744.5:c.6163A>G | ENSP00000386285.1:p.Ile2055Val | |
| ENST00000409762.5:c.6190A>G | ENSP00000387137.1:p.Ile2064Val | |
| ENST00000410020.7:c.6256A>G | ENSP00000386881.3:p.Ile2086Val | |
| ENST00000410041.1:c.6193A>G | ENSP00000386617.1:p.Ile2065Val | |
| ENST00000413539.6:c.6232A>G | ENSP00000407046.2:p.Ile2078Val | |
| ENST00000429174.6:c.6202A>G | ENSP00000398305.2:p.Ile2068Val | |
| ENST00000479049.6:n.3024A>G | ||
| NM_001130455.1:c.6142A>G | NP_001123927.1:p.Ile2048Val | |
| NM_001130976.1:c.6097A>G | NP_001124448.1:p.Ile2033Val | |
| NM_001130977.1:c.6160A>G | NP_001124449.1:p.Ile2054Val | |
| NM_001130978.1:c.6202A>G | NP_001124450.1:p.Ile2068Val | |
| NM_001130979.1:c.6232A>G | NP_001124451.1:p.Ile2078Val | |
| NM_001130980.1:c.6190A>G | NP_001124452.1:p.Ile2064Val | |
| NM_001130981.1:c.6253A>G | NP_001124453.1:p.Ile2085Val | |
| NM_001130982.1:c.6235A>G | NP_001124454.1:p.Ile2079Val | |
| NM_001130983.1:c.6205A>G | NP_001124455.1:p.Ile2069Val | |
| NM_001130984.1:c.6163A>G | NP_001124456.1:p.Ile2055Val | |
| NM_001130985.1:c.6193A>G | NP_001124457.1:p.Ile2065Val | |
| NM_001130986.1:c.6100A>G | NP_001124458.1:p.Ile2034Val | |
| NM_001130987.1:c.6256A>G | NP_001124459.1:p.Ile2086Val | |
| NM_003494.3:c.6139A>G | NP_003485.1:p.Ile2047Val | |
| XM_005264584.3:c.6298A>G | XP_005264641.1:p.Ile2100Val | |
| XM_005264585.3:c.6295A>G | XP_005264642.1:p.Ile2099Val | |
| XM_005264584.4:c.6298A>G | XP_005264641.1:p.Ile2100Val | |
| XM_005264585.5:c.6295A>G | XP_005264642.1:p.Ile2099Val | |
| NM_001130987.2:c.6256A>G MANE Select | NP_001124459.1:p.Ile2086Val | |
| NM_001130455.2:c.6142A>G | NP_001123927.1:p.Ile2048Val | |
| NM_001130976.2:c.6097A>G | NP_001124448.1:p.Ile2033Val | |
| NM_001130977.2:c.6160A>G | NP_001124449.1:p.Ile2054Val | |
| NM_001130978.2:c.6202A>G | NP_001124450.1:p.Ile2068Val | |
| NM_001130979.2:c.6232A>G | NP_001124451.1:p.Ile2078Val | |
| NM_001130980.2:c.6190A>G | NP_001124452.1:p.Ile2064Val | |
| NM_001130981.2:c.6253A>G | NP_001124453.1:p.Ile2085Val | |
| NM_001130982.2:c.6235A>G | NP_001124454.1:p.Ile2079Val | |
| NM_001130983.2:c.6205A>G | NP_001124455.1:p.Ile2069Val | |
| NM_001130984.2:c.6163A>G | NP_001124456.1:p.Ile2055Val | |
| NM_001130985.2:c.6193A>G | NP_001124457.1:p.Ile2065Val | |
| NM_001130986.2:c.6100A>G | NP_001124458.1:p.Ile2034Val | |
| NM_003494.4:c.6139A>G MANE Plus Clinical | NP_003485.1:p.Ile2047Val |