Linked Data
dbSNP Id:
rs1536836
gnomAD v2:
10-25790844-A-G
gnomAD v3:
10-25501915-A-G
gnomAD v4:
10-25501915-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.25501915A>G , CM000672.2:g.25501915A>G | GRCh38 |
| NC_000010.10:g.25790844A>G , CM000672.1:g.25790844A>G | GRCh37 |
| NC_000010.9:g.25830850A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376351.4:c.1404+35196A>G MANE Select | ENSP00000365529.3:n.1404+35196A>G | |
| ENST00000650135.1:c.1167+35196A>G | ENSP00000498176.1:n.1167+35196A>G | |
| ENST00000376351.3:c.1404+35196A>G | ENSP00000365529.3:n.1404+35196A>G | |
| NM_020752.2:c.1404+35196A>G | NP_065803.2:n.1404+35196A>G | |
| XR_930511.1:n.2088+35196A>G | ||
| XR_930512.1:n.2088+35196A>G | ||
| XM_017016452.2:c.-157+35196A>G | XP_016871941.1:n.-157+35196A>G | |
| XR_930512.3:n.2088+35196A>G | ||
| NM_020752.3:c.1404+35196A>G MANE Select | NP_065803.2:n.1404+35196A>G |