Linked Data
dbSNP Id:
rs543187865
gnomAD v2:
15-43544875-A-C
gnomAD v3:
15-43252677-A-C
gnomAD v4:
15-43252677-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43252677A>C , CM000677.2:g.43252677A>C | GRCh38 |
| NC_000015.9:g.43544875A>C , CM000677.1:g.43544875A>C | GRCh37 |
| NC_000015.8:g.41332167A>C | NCBI36 |
| NG_016124.1:g.19181T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220420.10:c.862+82T>G MANE Select | ENSP00000220420.5:n.862+82T>G | |
| ENST00000635871.1:n.331+82T>G | ||
| ENST00000220420.9:c.862+82T>G | ENSP00000220420.5:n.862+82T>G | |
| ENST00000349114.8:c.616+82T>G | ENSP00000220419.8:n.616+82T>G | |
| ENST00000610827.4:c.859+82T>G | ENSP00000479732.1:n.859+82T>G | |
| ENST00000611276.4:c.613+82T>G | ENSP00000482542.1:n.613+82T>G | |
| ENST00000622115.1:c.865+82T>G | ENSP00000479638.1:n.865+82T>G | |
| NM_004245.3:c.616+82T>G | NP_004236.1:n.616+82T>G | |
| NM_201631.3:c.862+82T>G | NP_963925.2:n.862+82T>G | |
| XM_011522229.1:c.862+82T>G | XP_011520531.1:n.862+82T>G | |
| XR_931948.1:n.1036+82T>G | ||
| NM_004245.4:c.616+82T>G | NP_004236.1:n.616+82T>G | |
| NM_201631.4:c.862+82T>G MANE Select | NP_963925.2:n.862+82T>G |