Linked Data
dbSNP Id:
rs6590489
gnomAD v2:
11-99863775-T-C
gnomAD v3:
11-99993043-T-C
gnomAD v4:
11-99993043-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.99993043T>C , CM000673.2:g.99993043T>C | GRCh38 |
| NC_000011.9:g.99863775T>C , CM000673.1:g.99863775T>C | GRCh37 |
| NC_000011.8:g.99368985T>C | NCBI36 |
| NG_047156.1:g.977068T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524871.6:c.878-8991T>C MANE Select | ENSP00000435637.1:n.878-8991T>C | |
| ENST00000279463.7:c.830-8991T>C | ENSP00000279463.4:n.830-8991T>C | |
| ENST00000418526.6:c.656-8991T>C | ENSP00000393229.2:n.656-8991T>C | |
| ENST00000524871.5:c.878-8991T>C | ENSP00000435637.1:n.878-8991T>C | |
| ENST00000525236.1:n.205-8991T>C | ||
| ENST00000527185.5:c.878-8991T>C | ENSP00000433575.1:n.878-8991T>C | |
| ENST00000528682.5:c.878-8991T>C | ENSP00000436185.1:n.878-8991T>C | |
| ENST00000528727.5:n.1382-8991T>C | ||
| ENST00000619298.1:c.644-8991T>C | ENSP00000478120.1:n.644-8991T>C | |
| NM_001243270.1:c.878-8991T>C | NP_001230199.1:n.878-8991T>C | |
| NM_001243271.1:c.878-8991T>C | NP_001230200.1:n.878-8991T>C | |
| NM_014361.3:c.878-8991T>C | NP_055176.1:n.878-8991T>C | |
| NM_175566.2:c.656-8991T>C | NP_780775.1:n.656-8991T>C | |
| XM_011542871.1:c.656-8991T>C | XP_011541173.1:n.656-8991T>C | |
| XM_011542872.1:c.878-8991T>C | XP_011541174.1:n.878-8991T>C | |
| XM_011542873.1:c.878-8991T>C | XP_011541175.1:n.878-8991T>C | |
| XM_017017926.1:c.878-8991T>C | XP_016873415.1:n.878-8991T>C | |
| XM_017017927.1:c.878-8991T>C | XP_016873416.1:n.878-8991T>C | |
| XM_017017928.1:c.878-8991T>C | XP_016873417.1:n.878-8991T>C | |
| XM_017017929.1:c.656-8991T>C | XP_016873418.1:n.656-8991T>C | |
| XR_001747909.1:n.1382-8991T>C | ||
| NM_014361.4:c.878-8991T>C MANE Select | NP_055176.1:n.878-8991T>C | |
| NM_001243270.2:c.878-8991T>C | NP_001230199.1:n.878-8991T>C | |
| NM_001243271.2:c.878-8991T>C | NP_001230200.1:n.878-8991T>C |