Linked Data
dbSNP Id:
rs753410571
gnomAD v2:
17-4539434-G-A
gnomAD v3:
17-4636139-G-A
gnomAD v4:
17-4636139-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4636139G>A , CM000679.2:g.4636139G>A | GRCh38 |
| NC_000017.10:g.4539434G>A , CM000679.1:g.4539434G>A | GRCh37 |
| NC_000017.9:g.4486183G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293761.8:c.952-171C>T MANE Select | ENSP00000293761.3:n.952-171C>T | |
| ENST00000570836.6:c.952-171C>T | ENSP00000458832.1:n.952-171C>T | |
| ENST00000293761.7:c.952-171C>T | ENSP00000293761.3:n.952-171C>T | |
| ENST00000570836.5:c.952-171C>T | ENSP00000458832.1:n.952-171C>T | |
| ENST00000574640.1:c.835-171C>T | ENSP00000460483.1:n.835-171C>T | |
| NM_001140.3:c.952-171C>T | NP_001131.3:n.952-171C>T | |
| NM_001140.4:c.952-171C>T | NP_001131.3:n.952-171C>T | |
| NM_001140.5:c.952-171C>T MANE Select | NP_001131.3:n.952-171C>T |