Linked Data
ClinVar Variation Id:
471311
dbSNP Id:
rs138357301
ExAC:
2:71887714 A / G
gnomAD v2:
2-71887714-A-G
gnomAD v3:
2-71660584-A-G
gnomAD v4:
2-71660584-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71660584A>G , CM000664.2:g.71660584A>G | GRCh38 |
| NC_000002.11:g.71887714A>G , CM000664.1:g.71887714A>G | GRCh37 |
| NC_000002.10:g.71741222A>G | NCBI36 |
| NG_008694.1:g.211962A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698057.1:c.2350A>G | ENSP00000513536.1:p.Ile784Val | |
| ENST00000698058.1:c.1567A>G | ENSP00000513537.1:p.Ile523Val | |
| ENST00000698059.1:c.1675A>G | ENSP00000513538.1:p.Ile559Val | |
| ENST00000258104.8:c.4819A>G MANE Plus Clinical | ENSP00000258104.3:p.Ile1607Val | |
| ENST00000410020.8:c.4936A>G MANE Select | ENSP00000386881.3:p.Ile1646Val | |
| ENST00000258104.7:c.4819A>G | ENSP00000258104.3:p.Ile1607Val | |
| ENST00000394120.6:c.4822A>G | ENSP00000377678.2:p.Ile1608Val | |
| ENST00000409366.5:c.4885A>G | ENSP00000386512.1:p.Ile1629Val | |
| ENST00000409582.7:c.4933A>G | ENSP00000386547.3:p.Ile1645Val | |
| ENST00000409651.5:c.4915A>G | ENSP00000386683.1:p.Ile1639Val | |
| ENST00000409744.5:c.4843A>G | ENSP00000386285.1:p.Ile1615Val | |
| ENST00000409762.5:c.4870A>G | ENSP00000387137.1:p.Ile1624Val | |
| ENST00000410020.7:c.4936A>G | ENSP00000386881.3:p.Ile1646Val | |
| ENST00000410041.1:c.4873A>G | ENSP00000386617.1:p.Ile1625Val | |
| ENST00000413539.6:c.4912A>G | ENSP00000407046.2:p.Ile1638Val | |
| ENST00000429174.6:c.4882A>G | ENSP00000398305.2:p.Ile1628Val | |
| ENST00000479049.6:n.1704A>G | ||
| NM_001130455.1:c.4822A>G | NP_001123927.1:p.Ile1608Val | |
| NM_001130976.1:c.4777A>G | NP_001124448.1:p.Ile1593Val | |
| NM_001130977.1:c.4840A>G | NP_001124449.1:p.Ile1614Val | |
| NM_001130978.1:c.4882A>G | NP_001124450.1:p.Ile1628Val | |
| NM_001130979.1:c.4912A>G | NP_001124451.1:p.Ile1638Val | |
| NM_001130980.1:c.4870A>G | NP_001124452.1:p.Ile1624Val | |
| NM_001130981.1:c.4933A>G | NP_001124453.1:p.Ile1645Val | |
| NM_001130982.1:c.4915A>G | NP_001124454.1:p.Ile1639Val | |
| NM_001130983.1:c.4885A>G | NP_001124455.1:p.Ile1629Val | |
| NM_001130984.1:c.4843A>G | NP_001124456.1:p.Ile1615Val | |
| NM_001130985.1:c.4873A>G | NP_001124457.1:p.Ile1625Val | |
| NM_001130986.1:c.4780A>G | NP_001124458.1:p.Ile1594Val | |
| NM_001130987.1:c.4936A>G | NP_001124459.1:p.Ile1646Val | |
| NM_003494.3:c.4819A>G | NP_003485.1:p.Ile1607Val | |
| XM_005264584.3:c.4978A>G | XP_005264641.1:p.Ile1660Val | |
| XM_005264585.3:c.4975A>G | XP_005264642.1:p.Ile1659Val | |
| XM_005264584.4:c.4978A>G | XP_005264641.1:p.Ile1660Val | |
| XM_005264585.5:c.4975A>G | XP_005264642.1:p.Ile1659Val | |
| XR_001738969.1:n.5136A>G | ||
| NM_001130987.2:c.4936A>G MANE Select | NP_001124459.1:p.Ile1646Val | |
| NM_001130455.2:c.4822A>G | NP_001123927.1:p.Ile1608Val | |
| NM_001130976.2:c.4777A>G | NP_001124448.1:p.Ile1593Val | |
| NM_001130977.2:c.4840A>G | NP_001124449.1:p.Ile1614Val | |
| NM_001130978.2:c.4882A>G | NP_001124450.1:p.Ile1628Val | |
| NM_001130979.2:c.4912A>G | NP_001124451.1:p.Ile1638Val | |
| NM_001130980.2:c.4870A>G | NP_001124452.1:p.Ile1624Val | |
| NM_001130981.2:c.4933A>G | NP_001124453.1:p.Ile1645Val | |
| NM_001130982.2:c.4915A>G | NP_001124454.1:p.Ile1639Val | |
| NM_001130983.2:c.4885A>G | NP_001124455.1:p.Ile1629Val | |
| NM_001130984.2:c.4843A>G | NP_001124456.1:p.Ile1615Val | |
| NM_001130985.2:c.4873A>G | NP_001124457.1:p.Ile1625Val | |
| NM_001130986.2:c.4780A>G | NP_001124458.1:p.Ile1594Val | |
| NM_003494.4:c.4819A>G MANE Plus Clinical | NP_003485.1:p.Ile1607Val |