Linked Data
dbSNP Id:
rs2596538
gnomAD v2:
6-31368632-G-A
gnomAD v3:
6-31400855-G-A
gnomAD v4:
6-31400855-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31400855G>A , CM000668.2:g.31400855G>A | GRCh38 |
| NC_000006.11:g.31368632G>A , CM000668.1:g.31368632G>A | GRCh37 |
| NC_000006.10:g.31476611G>A | NCBI36 |
| NG_034139.1:g.6072G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000667609.1:n.64+92G>A | ||
| ENST00000673647.1:c.-389+92G>A | ENSP00000500967.1:n.-389+92G>A | |
| ENST00000673996.1:n.79+72G>A | ||
| ENST00000674069.1:c.-173+92G>A | ENSP00000501157.1:n.-173+92G>A | |
| ENST00000674131.1:c.-389+72G>A | ENSP00000501002.1:n.-389+72G>A | |
| ENST00000616296.4:c.-222+72G>A | ENSP00000482382.1:n.-222+72G>A | |
| NM_001289152.1:c.-222+72G>A | NP_001276081.1:n.-222+72G>A | |
| NM_001289153.1:c.-222+92G>A | NP_001276082.1:n.-222+92G>A | |
| NM_001289154.1:c.-173+92G>A | NP_001276083.1:n.-173+92G>A | |
| NM_001289152.2:c.-222+72G>A | NP_001276081.1:n.-222+72G>A | |
| NM_001289153.2:c.-222+92G>A | NP_001276082.1:n.-222+92G>A | |
| NM_001289154.2:c.-173+92G>A | NP_001276083.1:n.-173+92G>A |