Linked Data
dbSNP Id:
rs1393996869
gnomAD v2:
16-31004602-G-A
gnomAD v3:
16-30993281-G-A
gnomAD v4:
16-30993281-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30993281G>A , CM000678.2:g.30993281G>A | GRCh38 |
| NC_000016.9:g.31004602G>A , CM000678.1:g.31004602G>A | GRCh37 |
| NC_000016.8:g.30912103G>A | NCBI36 |
| NG_041829.1:g.22228C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215095.11:c.676-41C>T MANE Select | ENSP00000215095.5:n.676-41C>T | |
| ENST00000565419.2:c.676-41C>T | ENSP00000455899.1:n.676-41C>T | |
| ENST00000215095.9:c.676-41C>T | ENSP00000215095.5:n.676-41C>T | |
| ENST00000565419.1:c.676-41C>T | ENSP00000455899.1:n.676-41C>T | |
| ENST00000569638.5:c.424-41C>T | ENSP00000457067.1:n.424-41C>T | |
| NM_052874.4:c.676-41C>T | NP_443106.1:n.676-41C>T | |
| XM_017022893.1:c.658-41C>T | XP_016878382.1:n.658-41C>T | |
| NM_052874.5:c.676-41C>T MANE Select | NP_443106.1:n.676-41C>T |