Linked Data
dbSNP Id:
rs7947224
gnomAD v2:
11-99873410-T-C
gnomAD v3:
11-100002678-T-C
gnomAD v4:
11-100002678-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.100002678T>C , CM000673.2:g.100002678T>C | GRCh38 |
| NC_000011.9:g.99873410T>C , CM000673.1:g.99873410T>C | GRCh37 |
| NC_000011.8:g.99378620T>C | NCBI36 |
| NG_047156.1:g.986703T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524871.6:c.980+542T>C MANE Select | ENSP00000435637.1:n.980+542T>C | |
| ENST00000279463.7:c.932+542T>C | ENSP00000279463.4:n.932+542T>C | |
| ENST00000418526.6:c.758+542T>C | ENSP00000393229.2:n.758+542T>C | |
| ENST00000524871.5:c.980+542T>C | ENSP00000435637.1:n.980+542T>C | |
| ENST00000525236.1:n.307+542T>C | ||
| ENST00000527185.5:c.980+542T>C | ENSP00000433575.1:n.980+542T>C | |
| ENST00000528682.5:c.980+542T>C | ENSP00000436185.1:n.980+542T>C | |
| ENST00000528727.5:n.1484+542T>C | ||
| ENST00000619298.1:c.746+542T>C | ENSP00000478120.1:n.746+542T>C | |
| NM_001243270.1:c.980+542T>C | NP_001230199.1:n.980+542T>C | |
| NM_001243271.1:c.980+542T>C | NP_001230200.1:n.980+542T>C | |
| NM_014361.3:c.980+542T>C | NP_055176.1:n.980+542T>C | |
| NM_175566.2:c.758+542T>C | NP_780775.1:n.758+542T>C | |
| XM_011542871.1:c.758+542T>C | XP_011541173.1:n.758+542T>C | |
| XM_011542872.1:c.980+542T>C | XP_011541174.1:n.980+542T>C | |
| XM_011542873.1:c.980+542T>C | XP_011541175.1:n.980+542T>C | |
| XM_017017926.1:c.980+542T>C | XP_016873415.1:n.980+542T>C | |
| XM_017017927.1:c.980+542T>C | XP_016873416.1:n.980+542T>C | |
| XM_017017928.1:c.980+542T>C | XP_016873417.1:n.980+542T>C | |
| XM_017017929.1:c.758+542T>C | XP_016873418.1:n.758+542T>C | |
| XR_001747909.1:n.1484+542T>C | ||
| NM_014361.4:c.980+542T>C MANE Select | NP_055176.1:n.980+542T>C | |
| NM_001243270.2:c.980+542T>C | NP_001230199.1:n.980+542T>C | |
| NM_001243271.2:c.980+542T>C | NP_001230200.1:n.980+542T>C |