Linked Data
ClinVar Variation Id:
1166104
dbSNP Id:
rs11037909
ExAC:
11:44255614 T / C
gnomAD v2:
11-44255614-T-C
gnomAD v3:
11-44234064-T-C
gnomAD v4:
11-44234064-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.44234064T>C , CM000673.2:g.44234064T>C | GRCh38 |
| NC_000011.9:g.44255614T>C , CM000673.1:g.44255614T>C | GRCh37 |
| NC_000011.8:g.44212190T>C | NCBI36 |
| NG_007560.1:g.143516T>C , LRG_494:g.143516T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343631.4:c.1807-51T>C | ENSP00000342656.3:n.1807-51T>C | |
| ENST00000395673.8:c.1807-51T>C | ENSP00000379032.4:n.1807-51T>C | |
| ENST00000682359.1:c.1573-51T>C | ENSP00000508226.1:n.1573-51T>C | |
| ENST00000682711.1:c.181-51T>C | ENSP00000506803.1:n.181-51T>C | |
| ENST00000682815.1:c.*767-51T>C | ENSP00000507234.1:n.*767-51T>C | |
| ENST00000682947.1:n.1791-51T>C | ||
| ENST00000682993.1:c.1807-51T>C | ENSP00000507580.1:n.1807-51T>C | |
| ENST00000683000.1:c.1807-51T>C | ENSP00000508361.1:n.1807-51T>C | |
| ENST00000683204.1:n.2122-51T>C | ||
| ENST00000683299.1:n.2224-51T>C | ||
| ENST00000683870.1:c.*501-51T>C | ENSP00000507922.1:n.*501-51T>C | |
| ENST00000683881.1:n.4368-51T>C | ||
| ENST00000684039.1:c.*279-51T>C | ENSP00000507677.1:n.*279-51T>C | |
| ENST00000684124.1:c.*699-51T>C | ENSP00000508332.1:n.*699-51T>C | |
| ENST00000684437.1:n.2155-51T>C | ||
| ENST00000684533.1:c.1471-51T>C | ENSP00000507915.1:n.1471-51T>C | |
| ENST00000533608.7:c.1807-51T>C MANE Select | ENSP00000431173.2:n.1807-51T>C | |
| ENST00000343631.3:c.1807-51T>C | ENSP00000342656.3:n.1807-51T>C | |
| ENST00000358681.8:c.1837-51T>C | ENSP00000351509.4:n.1837-51T>C | |
| ENST00000395673.7:c.1906-51T>C | ENSP00000379032.3:n.1906-51T>C | |
| ENST00000528159.1:n.240-51T>C | ||
| ENST00000533608.5:c.1807-51T>C | ENSP00000431173.1:n.1807-51T>C | |
| NM_000401.3:c.1906-51T>C , LRG_494t1:c.1906-51T>C | NP_000392.3:n.1906-51T>C | |
| NM_001178083.1:c.1837-51T>C | NP_001171554.1:n.1837-51T>C | |
| NM_207122.1:c.1807-51T>C , LRG_494t2:c.1807-51T>C | NP_997005.1:n.1807-51T>C | |
| XM_011519950.1:c.1945-51T>C | XP_011518252.1:n.1945-51T>C | |
| XM_011519951.1:c.1846-51T>C | XP_011518253.1:n.1846-51T>C | |
| NM_001178083.2:c.1837-51T>C | NP_001171554.1:n.1837-51T>C | |
| NM_207122.2:c.1807-51T>C MANE Select | NP_997005.1:n.1807-51T>C | |
| NM_001178083.3:c.1837-51T>C | NP_001171554.1:n.1837-51T>C | |
| NM_001389628.1:c.1807-51T>C | NP_001376557.1:n.1807-51T>C | |
| NM_001389630.1:c.1807-51T>C | NP_001376559.1:n.1807-51T>C |