Linked Data
dbSNP Id:
rs141635430
gnomAD v2:
4-3258431-A-G
gnomAD v3:
4-3256704-A-G
gnomAD v4:
4-3256704-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.3256704A>G , CM000666.2:g.3256704A>G | GRCh38 |
| NC_000004.11:g.3258431A>G , CM000666.1:g.3258431A>G | GRCh37 |
| NC_000004.10:g.3228229A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000505599.5:c.729+847A>G | ENSP00000425405.1:n.729+847A>G | |
| ENST00000510580.1:c.765+811A>G | ENSP00000420966.1:n.765+811A>G | |
| XM_011513464.1:c.729+847A>G | XP_011511766.1:n.729+847A>G | |
| XR_924950.1:n.753+847A>G |