Linked Data
dbSNP Id:
rs1036633160
gnomAD v2:
21-45711088-C-A
gnomAD v3:
21-44291205-C-A
gnomAD v4:
21-44291205-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44291205C>A , CM000683.2:g.44291205C>A | GRCh38 |
| NC_000021.8:g.45711088C>A , CM000683.1:g.45711088C>A | GRCh37 |
| NC_000021.7:g.44535516C>A | NCBI36 |
| NG_009556.1:g.10326C>A , LRG_18:g.10326C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.990C>A MANE Select | ENSP00000291582.5:p.Ile330= | |
| ENST00000291582.5:c.990C>A | ENSP00000291582.5:p.Ile330= | |
| ENST00000337909.5:n.451C>A | ||
| ENST00000397994.8:n.451C>A | ||
| ENST00000527919.5:n.1720C>A | ||
| ENST00000530812.5:n.2737C>A | ||
| NM_000383.3:c.990C>A | NP_000374.1:p.Ile330= | |
| XM_011529551.1:c.987C>A | XP_011527853.1:p.Ile329= | |
| NM_000383.4:c.990C>A MANE Select | NP_000374.1:p.Ile330= |