Linked Data
dbSNP Id:
rs529353639
gnomAD v2:
18-29104649-G-A
gnomAD v3:
18-31524686-G-A
gnomAD v4:
18-31524686-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31524686G>A , CM000680.2:g.31524686G>A | GRCh38 |
| NC_000018.9:g.29104649G>A , CM000680.1:g.29104649G>A | GRCh37 |
| NC_000018.8:g.27358647G>A | NCBI36 |
| NG_007072.3:g.31445G>A , LRG_397:g.31445G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682087.2:n.660-17G>A | ||
| ENST00000683614.2:n.660-17G>A | ||
| ENST00000682087.1:c.660-17G>A | ||
| ENST00000683614.1:c.660-17G>A | ||
| ENST00000261590.13:c.829-17G>A MANE Select | ENSP00000261590.8:n.829-17G>A | |
| ENST00000261590.12:c.829-17G>A | ENSP00000261590.8:n.829-17G>A | |
| NM_001943.3:c.829-17G>A , LRG_397t1:c.829-17G>A | NP_001934.2:n.829-17G>A | |
| NM_001943.4:c.829-17G>A | NP_001934.2:n.829-17G>A | |
| XM_024451095.1:c.295-17G>A | XP_024306863.1:n.295-17G>A | |
| NM_001943.5:c.829-17G>A MANE Select | NP_001934.2:n.829-17G>A |