Linked Data
dbSNP Id:
rs10504543
gnomAD v2:
8-73778642-G-A
gnomAD v3:
8-72866407-G-A
gnomAD v4:
8-72866407-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.72866407G>A , CM000670.2:g.72866407G>A | GRCh38 |
| NC_000008.10:g.73778642G>A , CM000670.1:g.73778642G>A | GRCh37 |
| NC_000008.9:g.73941196G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000523207.2:c.580-69528G>A MANE Select | ENSP00000430846.1:n.580-69528G>A | |
| ENST00000523207.1:c.580-69528G>A | ENSP00000430846.1:n.580-69528G>A | |
| NM_004770.2:c.580-69528G>A | NP_004761.2:n.580-69528G>A | |
| XM_017013981.1:c.-157+2703G>A | XP_016869470.1:n.-157+2703G>A | |
| XR_001745620.1:n.1141-69528G>A | ||
| XR_001745621.1:n.1141-69528G>A | ||
| NM_004770.3:c.580-69528G>A MANE Select | NP_004761.2:n.580-69528G>A |