Linked Data
ClinVar Variation Id:
1080112
ClinVar RCV Id:
RCV001395617
dbSNP Id:
rs2134450629
gnomAD v4:
10-124400922-T-C
MyVariant Identifiers:
chr10:g.126089491T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.124400922T>C , CM000672.2:g.124400922T>C | GRCh38 |
| NC_000010.10:g.126089491T>C , CM000672.1:g.126089491T>C | GRCh37 |
| NC_000010.9:g.126079481T>C | NCBI36 |
| NG_008861.1:g.23029A>G , LRG_685:g.23029A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368845.6:c.1077A>G MANE Select | ENSP00000357838.5:p.Glu359= | |
| ENST00000368845.5:c.1077A>G | ENSP00000357838.5:p.Glu359= | |
| ENST00000471127.1:n.587A>G | ||
| ENST00000539214.5:c.663A>G | ENSP00000439042.1:p.Glu221= | |
| NM_000274.3:c.1077A>G , LRG_685t1:c.1077A>G | NP_000265.1:p.Glu359= | |
| NM_001171814.1:c.663A>G | NP_001165285.1:p.Glu221= | |
| XM_006717871.2:c.1077A>G | XP_006717934.1:p.Glu359= | |
| XM_011539833.1:c.1077A>G | XP_011538135.1:p.Glu359= | |
| XM_011539834.1:c.1077A>G | XP_011538136.1:p.Glu359= | |
| NM_001322965.1:c.1077A>G | NP_001309894.1:p.Glu359= | |
| NM_001322966.1:c.1077A>G | NP_001309895.1:p.Glu359= | |
| NM_001322967.1:c.1077A>G | NP_001309896.1:p.Glu359= | |
| NM_001322968.1:c.1077A>G | NP_001309897.1:p.Glu359= | |
| NM_001322969.1:c.1077A>G | NP_001309898.1:p.Glu359= | |
| NM_001322970.1:c.1077A>G | NP_001309899.1:p.Glu359= | |
| NM_001322971.1:c.756A>G | NP_001309900.1:p.Glu252= | |
| NM_001322974.1:c.477A>G | NP_001309903.1:p.Glu159= | |
| XM_017016279.1:c.477A>G | XP_016871768.1:p.Glu159= | |
| NM_000274.4:c.1077A>G MANE Select | NP_000265.1:p.Glu359= | |
| NM_001322965.2:c.1077A>G | NP_001309894.1:p.Glu359= | |
| NM_001322966.2:c.1077A>G | NP_001309895.1:p.Glu359= | |
| NM_001322967.2:c.1077A>G | NP_001309896.1:p.Glu359= | |
| NM_001322968.2:c.1077A>G | NP_001309897.1:p.Glu359= | |
| NM_001322969.2:c.1077A>G | NP_001309898.1:p.Glu359= | |
| NM_001322970.2:c.1077A>G | NP_001309899.1:p.Glu359= | |
| NM_001322971.2:c.756A>G | NP_001309900.1:p.Glu252= | |
| NM_001322974.2:c.477A>G | NP_001309903.1:p.Glu159= | |
| NM_001171814.2:c.663A>G | NP_001165285.1:p.Glu221= |