Linked Data
dbSNP Id:
rs2236242
gnomAD v2:
14-94960052-T-A
gnomAD v3:
14-94493715-T-A
gnomAD v4:
14-94493715-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.94493715T>A , CM000676.2:g.94493715T>A | GRCh38 |
| NC_000014.8:g.94960052T>A , CM000676.1:g.94960052T>A | GRCh37 |
| NC_000014.7:g.94029805T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000677451.1:c.905+2658A>T MANE Select | ENSP00000503935.1:n.905+2658A>T | |
| ENST00000341228.2:c.905+2658A>T | ENSP00000342109.2:n.905+2658A>T | |
| ENST00000556881.5:c.905+2658A>T | ENSP00000451738.1:n.905+2658A>T | |
| NM_001304461.1:c.905+2658A>T | NP_001291390.1:n.905+2658A>T | |
| NM_173850.3:c.905+2658A>T | NP_776249.1:n.905+2658A>T | |
| XM_011536451.1:c.905+2658A>T | XP_011534753.1:n.905+2658A>T | |
| XM_011536452.1:c.905+2658A>T | XP_011534754.1:n.905+2658A>T | |
| XM_011536453.1:c.905+2658A>T | XP_011534755.1:n.905+2658A>T | |
| XM_011536454.1:c.905+2658A>T | XP_011534756.1:n.905+2658A>T | |
| XM_011536455.1:c.905+2658A>T | XP_011534757.1:n.905+2658A>T | |
| XM_011536451.3:c.905+2658A>T | XP_011534753.1:n.905+2658A>T | |
| XM_011536452.3:c.905+2658A>T | XP_011534754.1:n.905+2658A>T | |
| XM_011536453.2:c.905+2658A>T | XP_011534755.1:n.905+2658A>T | |
| XM_011536454.3:c.905+2658A>T | XP_011534756.1:n.905+2658A>T | |
| XM_017020989.2:c.905+2658A>T | XP_016876478.1:n.905+2658A>T | |
| XM_017020990.1:c.905+2658A>T | XP_016876479.1:n.905+2658A>T | |
| NM_001304461.2:c.905+2658A>T | NP_001291390.1:n.905+2658A>T | |
| NM_173850.4:c.905+2658A>T | NP_776249.1:n.905+2658A>T | |
| NM_001382267.1:c.905+2658A>T MANE Select | NP_001369196.1:n.905+2658A>T |