Linked Data
dbSNP Id:
rs3811951
gnomAD v2:
5-95762477-A-G
gnomAD v3:
5-96426773-A-G
gnomAD v4:
5-96426773-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96426773A>G , CM000667.2:g.96426773A>G | GRCh38 |
| NC_000005.9:g.95762477A>G , CM000667.1:g.95762477A>G | GRCh37 |
| NC_000005.8:g.95788233A>G | NCBI36 |
| NG_021161.1:g.11509T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000311106.8:c.286-843T>C MANE Select | ENSP00000308024.2:n.286-843T>C | |
| ENST00000311106.7:c.286-843T>C | ENSP00000308024.2:n.286-843T>C | |
| ENST00000508626.5:c.145-843T>C | ENSP00000421600.1:n.145-843T>C | |
| ENST00000509190.1:c.286-843T>C | ENSP00000427294.1:n.286-843T>C | |
| NM_000439.4:c.286-843T>C | NP_000430.3:n.286-843T>C | |
| NM_001177875.1:c.145-843T>C | NP_001171346.1:n.145-843T>C | |
| NR_130776.1:n.354+47121A>G | ||
| NM_000439.5:c.286-843T>C MANE Select | NP_000430.3:n.286-843T>C | |
| NM_001177875.2:c.145-843T>C | NP_001171346.1:n.145-843T>C |