Linked Data
dbSNP Id:
rs1447462325
gnomAD v2:
15-78792434-C-T
gnomAD v3:
15-78500092-C-T
gnomAD v4:
15-78500092-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78500092C>T , CM000677.2:g.78500092C>T | GRCh38 |
| NC_000015.9:g.78792434C>T , CM000677.1:g.78792434C>T | GRCh37 |
| NC_000015.8:g.76579489C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258886.13:c.*1949C>T MANE Select | ENSP00000258886.8:n.*1949C>T | |
| ENST00000258886.12:c.*1949C>T | ENSP00000258886.8:n.*1949C>T | |
| NM_004136.2:c.*1949C>T | NP_004127.1:n.*1949C>T | |
| NM_001320941.1:c.*1949C>T | NP_001307870.1:n.*1949C>T | |
| NM_001320942.1:c.*1949C>T | NP_001307871.1:n.*1949C>T | |
| NM_001354994.1:c.*1949C>T | NP_001341923.1:n.*1949C>T | |
| NM_004136.3:c.*1949C>T | NP_004127.1:n.*1949C>T | |
| NM_004136.4:c.*1949C>T MANE Select | NP_004127.2:n.*1949C>T | |
| NM_001320941.2:c.*1949C>T | NP_001307870.2:n.*1949C>T | |
| NM_001320942.2:c.*1949C>T | NP_001307871.2:n.*1949C>T | |
| NM_001354994.2:c.*1949C>T | NP_001341923.2:n.*1949C>T |