Linked Data
ClinVar Variation Id:
94327
dbSNP Id:
rs76086153
ExAC:
2:71883359 A / C
gnomAD v2:
2-71883359-A-C
gnomAD v3:
2-71656229-A-C
gnomAD v4:
2-71656229-A-C
PubMed:
PMID:23757202
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71656229A>C , CM000664.2:g.71656229A>C | GRCh38 |
| NC_000002.11:g.71883359A>C , CM000664.1:g.71883359A>C | GRCh37 |
| NC_000002.10:g.71736867A>C | NCBI36 |
| NG_008694.1:g.207607A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698057.1:c.2108A>C | ENSP00000513536.1:p.Lys703Thr | |
| ENST00000698058.1:c.1325A>C | ENSP00000513537.1:p.Lys442Thr | |
| ENST00000698059.1:c.1433A>C | ENSP00000513538.1:p.Lys478Thr | |
| ENST00000258104.8:c.4577A>C MANE Plus Clinical | ENSP00000258104.3:p.Lys1526Thr | |
| ENST00000410020.8:c.4694A>C MANE Select | ENSP00000386881.3:p.Lys1565Thr | |
| ENST00000258104.7:c.4577A>C | ENSP00000258104.3:p.Lys1526Thr | |
| ENST00000394120.6:c.4580A>C | ENSP00000377678.2:p.Lys1527Thr | |
| ENST00000409366.5:c.4643A>C | ENSP00000386512.1:p.Lys1548Thr | |
| ENST00000409582.7:c.4691A>C | ENSP00000386547.3:p.Lys1564Thr | |
| ENST00000409651.5:c.4673A>C | ENSP00000386683.1:p.Lys1558Thr | |
| ENST00000409744.5:c.4601A>C | ENSP00000386285.1:p.Lys1534Thr | |
| ENST00000409762.5:c.4628A>C | ENSP00000387137.1:p.Lys1543Thr | |
| ENST00000410020.7:c.4694A>C | ENSP00000386881.3:p.Lys1565Thr | |
| ENST00000410041.1:c.4631A>C | ENSP00000386617.1:p.Lys1544Thr | |
| ENST00000413539.6:c.4670A>C | ENSP00000407046.2:p.Lys1557Thr | |
| ENST00000429174.6:c.4640A>C | ENSP00000398305.2:p.Lys1547Thr | |
| ENST00000479049.6:n.1462A>C | ||
| NM_001130455.1:c.4580A>C | NP_001123927.1:p.Lys1527Thr | |
| NM_001130976.1:c.4535A>C | NP_001124448.1:p.Lys1512Thr | |
| NM_001130977.1:c.4598A>C | NP_001124449.1:p.Lys1533Thr | |
| NM_001130978.1:c.4640A>C | NP_001124450.1:p.Lys1547Thr | |
| NM_001130979.1:c.4670A>C | NP_001124451.1:p.Lys1557Thr | |
| NM_001130980.1:c.4628A>C | NP_001124452.1:p.Lys1543Thr | |
| NM_001130981.1:c.4691A>C | NP_001124453.1:p.Lys1564Thr | |
| NM_001130982.1:c.4673A>C | NP_001124454.1:p.Lys1558Thr | |
| NM_001130983.1:c.4643A>C | NP_001124455.1:p.Lys1548Thr | |
| NM_001130984.1:c.4601A>C | NP_001124456.1:p.Lys1534Thr | |
| NM_001130985.1:c.4631A>C | NP_001124457.1:p.Lys1544Thr | |
| NM_001130986.1:c.4538A>C | NP_001124458.1:p.Lys1513Thr | |
| NM_001130987.1:c.4694A>C | NP_001124459.1:p.Lys1565Thr | |
| NM_003494.3:c.4577A>C | NP_003485.1:p.Lys1526Thr | |
| XM_005264584.3:c.4736A>C | XP_005264641.1:p.Lys1579Thr | |
| XM_005264585.3:c.4733A>C | XP_005264642.1:p.Lys1578Thr | |
| XM_005264584.4:c.4736A>C | XP_005264641.1:p.Lys1579Thr | |
| XM_005264585.5:c.4733A>C | XP_005264642.1:p.Lys1578Thr | |
| XR_001738969.1:n.4894A>C | ||
| NM_001130987.2:c.4694A>C MANE Select | NP_001124459.1:p.Lys1565Thr | |
| NM_001130455.2:c.4580A>C | NP_001123927.1:p.Lys1527Thr | |
| NM_001130976.2:c.4535A>C | NP_001124448.1:p.Lys1512Thr | |
| NM_001130977.2:c.4598A>C | NP_001124449.1:p.Lys1533Thr | |
| NM_001130978.2:c.4640A>C | NP_001124450.1:p.Lys1547Thr | |
| NM_001130979.2:c.4670A>C | NP_001124451.1:p.Lys1557Thr | |
| NM_001130980.2:c.4628A>C | NP_001124452.1:p.Lys1543Thr | |
| NM_001130981.2:c.4691A>C | NP_001124453.1:p.Lys1564Thr | |
| NM_001130982.2:c.4673A>C | NP_001124454.1:p.Lys1558Thr | |
| NM_001130983.2:c.4643A>C | NP_001124455.1:p.Lys1548Thr | |
| NM_001130984.2:c.4601A>C | NP_001124456.1:p.Lys1534Thr | |
| NM_001130985.2:c.4631A>C | NP_001124457.1:p.Lys1544Thr | |
| NM_001130986.2:c.4538A>C | NP_001124458.1:p.Lys1513Thr | |
| NM_003494.4:c.4577A>C MANE Plus Clinical | NP_003485.1:p.Lys1526Thr |