Linked Data
ClinVar Variation Id:
13507
dbSNP Id:
rs113994097
ExAC:
15:89866657 C / G
gnomAD v2:
15-89866657-C-G
gnomAD v3:
15-89323426-C-G
gnomAD v4:
15-89323426-C-G
PubMed:
PMID:11571332
PMID:15477547
PMID:15689359
PMID:15824347
PMID:15929042
PMID:16080118
PMID:16177225
PMID:16545482
PMID:16621917
PMID:16638794
PMID:16639411
PMID:17426723
PMID:17438011
PMID:17452231
PMID:17894835
PMID:18487244
PMID:18546365
PMID:18828154
PMID:18991199
PMID:19103152
PMID:19125351
PMID:19251978
PMID:19566497
PMID:19578034
PMID:19752458
PMID:20142534
PMID:20301791
PMID:20576279
PMID:20818383
PMID:21236670
PMID:21357833
PMID:21515089
PMID:21880868
PMID:21956653
PMID:21993618
PMID:22166854
PMID:22189570
PMID:22616202
PMID:22711370
PMID:23212759
PMID:23248042
PMID:23448099
PMID:23757202
PMID:23804100
PMID:23808377
PMID:25025039
PMID:28812649
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89323426C>G , CM000677.2:g.89323426C>G | GRCh38 |
| NC_000015.9:g.89866657C>G , CM000677.1:g.89866657C>G | GRCh37 |
| NC_000015.8:g.87667661C>G | NCBI36 |
| NG_008218.1:g.16370G>C | |
| NG_008218.2:g.16370G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000636937.2:c.2243G>C | ENSP00000516154.1:p.Trp748Ser | |
| ENST00000268124.11:c.2243G>C MANE Select | ENSP00000268124.5:p.Trp748Ser | |
| ENST00000530292.3:c.1844G>C | ENSP00000432885.2:p.Trp615Ser | |
| ENST00000635986.2:c.2243G>C | ENSP00000490653.2:p.Trp748Ser | |
| ENST00000636774.1:c.*810G>C | ENSP00000489799.1:n.*810G>C | |
| ENST00000637238.1:c.940G>C | ENSP00000490756.1:n.940G>C | |
| ENST00000637264.1:c.1315G>C | ||
| ENST00000666746.1:c.1820G>C | ||
| ENST00000670281.1:c.563G>C | ENSP00000499709.1:p.Trp188Ser | |
| ENST00000672071.1:n.2441G>C | ||
| ENST00000672923.2:n.2346G>C | ||
| ENST00000268124.9:c.2243G>C | ENSP00000268124.5:p.Trp748Ser | |
| ENST00000442287.6:c.2243G>C | ENSP00000399851.2:p.Trp748Ser | |
| ENST00000526314.2:c.539+389G>C | ||
| ENST00000526398.1:c.392G>C | ||
| ENST00000528881.2:c.12G>C | ||
| ENST00000530715.5:c.2G>C | ENSP00000431395.1:p.Trp1Ser | |
| ENST00000532584.5:n.445G>C | ||
| ENST00000631044.2:c.*1667G>C | ENSP00000486730.1:n.*1667G>C | |
| NM_001126131.1:c.2243G>C | NP_001119603.1:p.Trp748Ser | |
| NM_002693.2:c.2243G>C | NP_002684.1:p.Trp748Ser | |
| NM_001126131.2:c.2243G>C | NP_001119603.1:p.Trp748Ser | |
| NM_002693.3:c.2243G>C MANE Select | NP_002684.1:p.Trp748Ser |