Linked Data
ClinVar Variation Id:
290095
dbSNP Id:
rs538781815
ExAC:
2:71886126 G / A
gnomAD v2:
2-71886126-G-A
gnomAD v3:
2-71658996-G-A
gnomAD v4:
2-71658996-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71658996G>A , CM000664.2:g.71658996G>A | GRCh38 |
| NC_000002.11:g.71886126G>A , CM000664.1:g.71886126G>A | GRCh37 |
| NC_000002.10:g.71739634G>A | NCBI36 |
| NG_008694.1:g.210374G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698057.1:c.2288G>A | ENSP00000513536.1:p.Arg763Gln | |
| ENST00000698058.1:c.1505G>A | ENSP00000513537.1:p.Arg502Gln | |
| ENST00000698059.1:c.1613G>A | ENSP00000513538.1:p.Arg538Gln | |
| ENST00000258104.8:c.4757G>A MANE Plus Clinical | ENSP00000258104.3:p.Arg1586Gln | |
| ENST00000410020.8:c.4874G>A MANE Select | ENSP00000386881.3:p.Arg1625Gln | |
| ENST00000258104.7:c.4757G>A | ENSP00000258104.3:p.Arg1586Gln | |
| ENST00000394120.6:c.4760G>A | ENSP00000377678.2:p.Arg1587Gln | |
| ENST00000409366.5:c.4823G>A | ENSP00000386512.1:p.Arg1608Gln | |
| ENST00000409582.7:c.4871G>A | ENSP00000386547.3:p.Arg1624Gln | |
| ENST00000409651.5:c.4853G>A | ENSP00000386683.1:p.Arg1618Gln | |
| ENST00000409744.5:c.4781G>A | ENSP00000386285.1:p.Arg1594Gln | |
| ENST00000409762.5:c.4808G>A | ENSP00000387137.1:p.Arg1603Gln | |
| ENST00000410020.7:c.4874G>A | ENSP00000386881.3:p.Arg1625Gln | |
| ENST00000410041.1:c.4811G>A | ENSP00000386617.1:p.Arg1604Gln | |
| ENST00000413539.6:c.4850G>A | ENSP00000407046.2:p.Arg1617Gln | |
| ENST00000429174.6:c.4820G>A | ENSP00000398305.2:p.Arg1607Gln | |
| ENST00000479049.6:n.1642G>A | ||
| NM_001130455.1:c.4760G>A | NP_001123927.1:p.Arg1587Gln | |
| NM_001130976.1:c.4715G>A | NP_001124448.1:p.Arg1572Gln | |
| NM_001130977.1:c.4778G>A | NP_001124449.1:p.Arg1593Gln | |
| NM_001130978.1:c.4820G>A | NP_001124450.1:p.Arg1607Gln | |
| NM_001130979.1:c.4850G>A | NP_001124451.1:p.Arg1617Gln | |
| NM_001130980.1:c.4808G>A | NP_001124452.1:p.Arg1603Gln | |
| NM_001130981.1:c.4871G>A | NP_001124453.1:p.Arg1624Gln | |
| NM_001130982.1:c.4853G>A | NP_001124454.1:p.Arg1618Gln | |
| NM_001130983.1:c.4823G>A | NP_001124455.1:p.Arg1608Gln | |
| NM_001130984.1:c.4781G>A | NP_001124456.1:p.Arg1594Gln | |
| NM_001130985.1:c.4811G>A | NP_001124457.1:p.Arg1604Gln | |
| NM_001130986.1:c.4718G>A | NP_001124458.1:p.Arg1573Gln | |
| NM_001130987.1:c.4874G>A | NP_001124459.1:p.Arg1625Gln | |
| NM_003494.3:c.4757G>A | NP_003485.1:p.Arg1586Gln | |
| XM_005264584.3:c.4916G>A | XP_005264641.1:p.Arg1639Gln | |
| XM_005264585.3:c.4913G>A | XP_005264642.1:p.Arg1638Gln | |
| XM_005264584.4:c.4916G>A | XP_005264641.1:p.Arg1639Gln | |
| XM_005264585.5:c.4913G>A | XP_005264642.1:p.Arg1638Gln | |
| XR_001738969.1:n.5074G>A | ||
| NM_001130987.2:c.4874G>A MANE Select | NP_001124459.1:p.Arg1625Gln | |
| NM_001130455.2:c.4760G>A | NP_001123927.1:p.Arg1587Gln | |
| NM_001130976.2:c.4715G>A | NP_001124448.1:p.Arg1572Gln | |
| NM_001130977.2:c.4778G>A | NP_001124449.1:p.Arg1593Gln | |
| NM_001130978.2:c.4820G>A | NP_001124450.1:p.Arg1607Gln | |
| NM_001130979.2:c.4850G>A | NP_001124451.1:p.Arg1617Gln | |
| NM_001130980.2:c.4808G>A | NP_001124452.1:p.Arg1603Gln | |
| NM_001130981.2:c.4871G>A | NP_001124453.1:p.Arg1624Gln | |
| NM_001130982.2:c.4853G>A | NP_001124454.1:p.Arg1618Gln | |
| NM_001130983.2:c.4823G>A | NP_001124455.1:p.Arg1608Gln | |
| NM_001130984.2:c.4781G>A | NP_001124456.1:p.Arg1594Gln | |
| NM_001130985.2:c.4811G>A | NP_001124457.1:p.Arg1604Gln | |
| NM_001130986.2:c.4718G>A | NP_001124458.1:p.Arg1573Gln | |
| NM_003494.4:c.4757G>A MANE Plus Clinical | NP_003485.1:p.Arg1586Gln |