Linked Data
dbSNP Id:
rs26528
gnomAD v2:
16-28517709-T-C
gnomAD v3:
16-28506388-T-C
gnomAD v4:
16-28506388-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28506388T>C , CM000678.2:g.28506388T>C | GRCh38 |
| NC_000016.9:g.28517709T>C , CM000678.1:g.28517709T>C | GRCh37 |
| NC_000016.8:g.28425210T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356897.1:c.31+393A>G MANE Select | ENSP00000349365.1:n.31+393A>G | |
| ENST00000568075.1:c.-362-2338A>G | ENSP00000455990.1:n.-362-2338A>G | |
| NM_145659.3:c.31+393A>G MANE Select | NP_663634.2:n.31+393A>G | |
| XM_011545780.1:c.38-2338A>G | XP_011544082.1:n.38-2338A>G | |
| XM_011545780.2:c.38-2338A>G | XP_011544082.1:n.38-2338A>G |