Linked Data
dbSNP Id:
rs756920680
gnomAD v2:
8-65537100-C-A
gnomAD v3:
8-64624543-C-A
gnomAD v4:
8-64624543-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.64624543C>A , CM000670.2:g.64624543C>A | GRCh38 |
| NC_000008.10:g.65537100C>A , CM000670.1:g.65537100C>A | GRCh37 |
| NC_000008.9:g.65699654C>A | NCBI36 |
| NG_008338.1:g.179249G>T | |
| NG_008338.2:g.179249G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310193.4:c.123-4G>T MANE Select | ENSP00000310721.3:n.123-4G>T | |
| ENST00000310193.3:c.123-4G>T | ENSP00000310721.3:n.123-4G>T | |
| NM_004820.3:c.123-4G>T | NP_004811.1:n.123-4G>T | |
| NM_001324112.1:c.123-4G>T | NP_001311041.1:n.123-4G>T | |
| NM_004820.4:c.123-4G>T | NP_004811.1:n.123-4G>T | |
| XM_017014002.1:c.189-4G>T | XP_016869491.1:n.189-4G>T | |
| NM_004820.5:c.123-4G>T MANE Select | NP_004811.1:n.123-4G>T | |
| NM_001324112.2:c.123-4G>T | NP_001311041.1:n.123-4G>T |