Linked Data
ClinVar Variation Id:
285159
dbSNP Id:
rs766512164
ExAC:
2:71847686 G / A
gnomAD v2:
2-71847686-G-A
gnomAD v3:
2-71620556-G-A
gnomAD v4:
2-71620556-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71620556G>A , CM000664.2:g.71620556G>A | GRCh38 |
| NC_000002.11:g.71847686G>A , CM000664.1:g.71847686G>A | GRCh37 |
| NC_000002.10:g.71701194G>A | NCBI36 |
| NG_008694.1:g.171934G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698057.1:c.1888G>A | ENSP00000513536.1:p.Gly630Ser | |
| ENST00000698058.1:c.1105G>A | ENSP00000513537.1:p.Gly369Ser | |
| ENST00000698059.1:c.1063G>A | ENSP00000513538.1:p.Gly355Ser | |
| ENST00000258104.8:c.4410+7146G>A MANE Plus Clinical | ENSP00000258104.3:n.4410+7146G>A | |
| ENST00000410020.8:c.4474G>A MANE Select | ENSP00000386881.3:p.Gly1492Ser | |
| ENST00000258104.7:c.4410+7146G>A | ENSP00000258104.3:n.4410+7146G>A | |
| ENST00000394120.6:c.4413+7146G>A | ENSP00000377678.2:n.4413+7146G>A | |
| ENST00000409366.5:c.4423G>A | ENSP00000386512.1:p.Gly1475Ser | |
| ENST00000409582.7:c.4471G>A | ENSP00000386547.3:p.Gly1491Ser | |
| ENST00000409651.5:c.4506+7146G>A | ENSP00000386683.1:n.4506+7146G>A | |
| ENST00000409744.5:c.4381G>A | ENSP00000386285.1:p.Gly1461Ser | |
| ENST00000409762.5:c.4461+7146G>A | ENSP00000387137.1:n.4461+7146G>A | |
| ENST00000410020.7:c.4474G>A | ENSP00000386881.3:p.Gly1492Ser | |
| ENST00000410041.1:c.4464+7146G>A | ENSP00000386617.1:n.4464+7146G>A | |
| ENST00000413539.6:c.4503+7146G>A | ENSP00000407046.2:n.4503+7146G>A | |
| ENST00000429174.6:c.4420G>A | ENSP00000398305.2:p.Gly1474Ser | |
| ENST00000468173.1:n.656G>A | ||
| ENST00000479049.6:n.1295+7146G>A | ||
| NM_001130455.1:c.4413+7146G>A | NP_001123927.1:n.4413+7146G>A | |
| NM_001130976.1:c.4368+7146G>A | NP_001124448.1:n.4368+7146G>A | |
| NM_001130977.1:c.4378G>A | NP_001124449.1:p.Gly1460Ser | |
| NM_001130978.1:c.4420G>A | NP_001124450.1:p.Gly1474Ser | |
| NM_001130979.1:c.4503+7146G>A | NP_001124451.1:n.4503+7146G>A | |
| NM_001130980.1:c.4461+7146G>A | NP_001124452.1:n.4461+7146G>A | |
| NM_001130981.1:c.4471G>A | NP_001124453.1:p.Gly1491Ser | |
| NM_001130982.1:c.4506+7146G>A | NP_001124454.1:n.4506+7146G>A | |
| NM_001130983.1:c.4423G>A | NP_001124455.1:p.Gly1475Ser | |
| NM_001130984.1:c.4381G>A | NP_001124456.1:p.Gly1461Ser | |
| NM_001130985.1:c.4464+7146G>A | NP_001124457.1:n.4464+7146G>A | |
| NM_001130986.1:c.4371+7146G>A | NP_001124458.1:n.4371+7146G>A | |
| NM_001130987.1:c.4474G>A | NP_001124459.1:p.Gly1492Ser | |
| NM_003494.3:c.4410+7146G>A | NP_003485.1:n.4410+7146G>A | |
| XM_005264584.3:c.4516G>A | XP_005264641.1:p.Gly1506Ser | |
| XM_005264585.3:c.4513G>A | XP_005264642.1:p.Gly1505Ser | |
| XM_005264584.4:c.4516G>A | XP_005264641.1:p.Gly1506Ser | |
| XM_005264585.5:c.4513G>A | XP_005264642.1:p.Gly1505Ser | |
| XR_001738969.1:n.4674G>A | ||
| NM_001130987.2:c.4474G>A MANE Select | NP_001124459.1:p.Gly1492Ser | |
| NM_001130455.2:c.4413+7146G>A | NP_001123927.1:n.4413+7146G>A | |
| NM_001130976.2:c.4368+7146G>A | NP_001124448.1:n.4368+7146G>A | |
| NM_001130977.2:c.4378G>A | NP_001124449.1:p.Gly1460Ser | |
| NM_001130978.2:c.4420G>A | NP_001124450.1:p.Gly1474Ser | |
| NM_001130979.2:c.4503+7146G>A | NP_001124451.1:n.4503+7146G>A | |
| NM_001130980.2:c.4461+7146G>A | NP_001124452.1:n.4461+7146G>A | |
| NM_001130981.2:c.4471G>A | NP_001124453.1:p.Gly1491Ser | |
| NM_001130982.2:c.4506+7146G>A | NP_001124454.1:n.4506+7146G>A | |
| NM_001130983.2:c.4423G>A | NP_001124455.1:p.Gly1475Ser | |
| NM_001130984.2:c.4381G>A | NP_001124456.1:p.Gly1461Ser | |
| NM_001130985.2:c.4464+7146G>A | NP_001124457.1:n.4464+7146G>A | |
| NM_001130986.2:c.4371+7146G>A | NP_001124458.1:n.4371+7146G>A | |
| NM_003494.4:c.4410+7146G>A MANE Plus Clinical | NP_003485.1:n.4410+7146G>A |