Linked Data
dbSNP Id:
rs182868886
gnomAD v2:
17-31393679-G-A
gnomAD v3:
17-33066661-G-A
gnomAD v4:
17-33066661-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.33066661G>A , CM000679.2:g.33066661G>A | GRCh38 |
| NC_000017.10:g.31393679G>A , CM000679.1:g.31393679G>A | GRCh37 |
| NC_000017.9:g.28417792G>A | NCBI36 |
| NG_029763.1:g.1095147C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225823.7:c.987+22202C>T MANE Select | ENSP00000225823.2:n.987+22202C>T | |
| ENST00000225823.6:c.987+22202C>T | ENSP00000225823.2:n.987+22202C>T | |
| ENST00000359872.6:c.834+22202C>T | ENSP00000352934.6:n.834+22202C>T | |
| ENST00000448983.1:n.392+22202C>T | ||
| NM_001094.4:c.834+22202C>T | NP_001085.2:n.834+22202C>T | |
| NM_183377.1:c.987+22202C>T | NP_899233.1:n.987+22202C>T | |
| NM_001094.5:c.834+22202C>T | NP_001085.2:n.834+22202C>T | |
| NM_183377.2:c.987+22202C>T MANE Select | NP_899233.1:n.987+22202C>T |