Linked Data
dbSNP Id:
rs13409
gnomAD v2:
6-31132140-G-A
gnomAD v3:
6-31164363-G-A
gnomAD v4:
6-31164363-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31164363G>A , CM000668.2:g.31164363G>A | GRCh38 |
| NC_000006.11:g.31132140G>A , CM000668.1:g.31132140G>A | GRCh37 |
| NC_000006.10:g.31240119G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000542218.2:c.798-1917G>A (TCF19) | ENSP00000439397.2:n.798-1917G>A | |
| ENST00000259915.13:c.*238C>T (POU5F1) MANE Select | ENSP00000259915.7:n.*238C>T | |
| ENST00000606567.6:c.*238C>T (POU5F1) | ENSP00000475880.2:n.*238C>T | |
| ENST00000259915.12:c.*238C>T (POU5F1) | ENSP00000259915.7:n.*238C>T | |
| ENST00000441888.7:c.*238C>T (POU5F1) | ENSP00000389359.2:n.*238C>T | |
| ENST00000471529.6:c.*238C>T (POU5F1) | ENSP00000425083.1:n.*238C>T | |
| ENST00000512818.5:c.*238C>T (POU5F1) | ENSP00000425479.1:n.*238C>T | |
| ENST00000513407.1:c.*238C>T (POU5F1) | ENSP00000475512.1:n.*238C>T | |
| ENST00000542218.1:c.558-1917G>A (TCF19) | ENSP00000439397.1:n.558-1917G>A | |
| ENST00000606567.5:c.*238C>T (POU5F1) | ENSP00000475880.1:n.*238C>T | |
| ENST00000620031.4:c.*238C>T (POU5F1) | ENSP00000484778.1:n.*238C>T | |
| NM_001173531.2:c.*238C>T (POU5F1) | NP_001167002.1:n.*238C>T | |
| NM_001285986.1:c.*238C>T (POU5F1) | NP_001272915.1:n.*238C>T | |
| NM_001285987.1:c.*238C>T (POU5F1) | NP_001272916.1:n.*238C>T | |
| NM_002701.5:c.*238C>T (POU5F1) | NP_002692.2:n.*238C>T | |
| NM_203289.5:c.*238C>T (POU5F1) | NP_976034.4:n.*238C>T | |
| NM_002701.6:c.*238C>T (POU5F1) MANE Select | NP_002692.2:n.*238C>T | |
| NM_001173531.3:c.*238C>T (POU5F1) | NP_001167002.1:n.*238C>T | |
| NM_001285986.2:c.*238C>T (POU5F1) | NP_001272915.1:n.*238C>T | |
| NM_203289.6:c.*238C>T (POU5F1) | NP_976034.4:n.*238C>T |