Linked Data
dbSNP Id:
rs1317193614
gnomAD v2:
21-45706402-G-A
gnomAD v3:
21-44286519-G-A
gnomAD v4:
21-44286519-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44286519G>A , CM000683.2:g.44286519G>A | GRCh38 |
| NC_000021.8:g.45706402G>A , CM000683.1:g.45706402G>A | GRCh37 |
| NC_000021.7:g.44530830G>A | NCBI36 |
| NG_009556.1:g.5640G>A , LRG_18:g.5640G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.133-38G>A MANE Select | ENSP00000291582.5:n.133-38G>A | |
| ENST00000291582.5:c.133-38G>A | ENSP00000291582.5:n.133-38G>A | |
| ENST00000527919.5:n.294-38G>A | ||
| ENST00000530812.5:n.302-38G>A | ||
| NM_000383.3:c.133-38G>A | NP_000374.1:n.133-38G>A | |
| XM_011529551.1:c.133-38G>A | XP_011527853.1:n.133-38G>A | |
| NM_000383.4:c.133-38G>A MANE Select | NP_000374.1:n.133-38G>A |