Linked Data
dbSNP Id:
rs2941484
gnomAD v2:
8-76478768-C-T
gnomAD v3:
8-75566533-C-T
gnomAD v4:
8-75566533-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.75566533C>T , CM000670.2:g.75566533C>T | GRCh38 |
| NC_000008.10:g.76478768C>T , CM000670.1:g.76478768C>T | GRCh37 |
| NC_000008.9:g.76641323C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396423.4:c.*2437C>T MANE Select | ENSP00000379701.3:n.*2437C>T | |
| ENST00000674002.1:c.*2437C>T | ENSP00000501146.1:n.*2437C>T | |
| ENST00000396423.2:c.*2437C>T | ENSP00000379701.2:n.*2437C>T | |
| NM_004133.4:c.*2437C>T | NP_004124.4:n.*2437C>T | |
| XM_011517514.1:c.*2437C>T | XP_011515816.1:n.*2437C>T | |
| XM_011517515.1:c.*2437C>T | XP_011515817.1:n.*2437C>T | |
| XM_011517516.1:c.*2437C>T | XP_011515818.1:n.*2437C>T | |
| XM_011517517.1:c.*2437C>T | XP_011515819.1:n.*2437C>T | |
| XM_011517518.1:c.*2437C>T | XP_011515820.1:n.*2437C>T | |
| XM_011517519.1:c.*2437C>T | XP_011515821.1:n.*2437C>T | |
| XM_011517520.1:c.*2437C>T | XP_011515822.1:n.*2437C>T | |
| NM_001330561.1:c.*2437C>T | NP_001317490.1:n.*2437C>T | |
| NM_001330561.2:c.*2437C>T | NP_001317490.1:n.*2437C>T | |
| NM_004133.5:c.*2437C>T MANE Select | NP_004124.5:n.*2437C>T |