Linked Data
gnomAD v4:
21-44287144-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44287144T>G , CM000683.2:g.44287144T>G | GRCh38 |
| NC_000021.8:g.45707027T>G , CM000683.1:g.45707027T>G | GRCh37 |
| NC_000021.7:g.44531455T>G | NCBI36 |
| NG_009556.1:g.6265T>G , LRG_18:g.6265T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.463+11T>G MANE Select | ENSP00000291582.5:n.463+11T>G | |
| ENST00000291582.5:c.463+11T>G | ENSP00000291582.5:n.463+11T>G | |
| ENST00000527919.5:n.635T>G | ||
| ENST00000530812.5:n.643T>G | ||
| NM_000383.3:c.463+11T>G | NP_000374.1:n.463+11T>G | |
| XM_011529551.1:c.463+11T>G | XP_011527853.1:n.463+11T>G | |
| NM_000383.4:c.463+11T>G MANE Select | NP_000374.1:n.463+11T>G |