Linked Data
dbSNP Id:
rs10483776
gnomAD v2:
14-65914867-A-G
gnomAD v3:
14-65448149-A-G
gnomAD v4:
14-65448149-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.65448149A>G , CM000676.2:g.65448149A>G | GRCh38 |
| NC_000014.8:g.65914867A>G , CM000676.1:g.65914867A>G | GRCh37 |
| NC_000014.7:g.64984620A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000673929.1:c.-325-7472A>G MANE Select | ENSP00000501213.1:n.-325-7472A>G | |
| ENST00000674118.1:c.-325-7472A>G | ENSP00000501008.1:n.-325-7472A>G | |
| ENST00000342677.10:c.-325-7472A>G | ENSP00000345865.6:n.-325-7472A>G | |
| ENST00000358307.6:c.-384-7472A>G | ENSP00000351057.2:n.-384-7472A>G | |
| ENST00000360689.9:c.-325-7472A>G | ENSP00000353910.5:n.-325-7472A>G | |
| ENST00000394586.6:c.-228+36156A>G | ENSP00000378087.2:n.-228+36156A>G | |
| ENST00000549235.6:n.104-7472A>G | ||
| ENST00000553924.5:c.-471-7472A>G | ENSP00000451577.1:n.-471-7472A>G | |
| ENST00000554610.1:c.-228+34935A>G | ENSP00000452309.1:n.-228+34935A>G | |
| ENST00000555559.5:c.-403-7472A>G | ENSP00000451689.1:n.-403-7472A>G | |
| ENST00000556292.1:n.147-7472A>G | ||
| ENST00000556518.5:c.-325-7472A>G | ENSP00000452597.1:n.-325-7472A>G | |
| ENST00000557164.5:c.-384-7472A>G | ENSP00000452433.1:n.-384-7472A>G | |
| ENST00000557338.5:c.-403-7472A>G | ENSP00000452105.1:n.-403-7472A>G | |
| NM_004480.4:c.-384-7472A>G | NP_004471.4:n.-384-7472A>G | |
| NM_178155.2:c.-325-7472A>G | NP_835368.1:n.-325-7472A>G | |
| NM_178156.2:c.-228+36156A>G | NP_835369.1:n.-228+36156A>G | |
| NR_038167.1:n.1403-7472A>G | ||
| NR_038170.1:n.486-7472A>G | ||
| XM_011536613.1:c.-228+34935A>G | XP_011534915.1:n.-228+34935A>G | |
| XM_017021136.1:c.-325-7472A>G | XP_016876625.1:n.-325-7472A>G | |
| XM_017021137.1:c.-325-7472A>G | XP_016876626.1:n.-325-7472A>G | |
| XM_017021138.1:c.-228+36156A>G | XP_016876627.1:n.-228+36156A>G | |
| XM_017021139.1:c.-228+34935A>G | XP_016876628.1:n.-228+34935A>G | |
| NM_001371533.1:c.-325-7472A>G MANE Select | NP_001358462.1:n.-325-7472A>G | |
| NM_001371534.1:c.-325-7472A>G | NP_001358463.1:n.-325-7472A>G | |
| NM_001371536.1:c.-325-7472A>G | NP_001358465.1:n.-325-7472A>G | |
| NM_178155.3:c.-325-7472A>G | NP_835368.1:n.-325-7472A>G |