Linked Data
dbSNP Id:
rs142894607
gnomAD v2:
10-105884054-T-G
gnomAD v3:
10-104124296-T-G
gnomAD v4:
10-104124296-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104124296T>G , CM000672.2:g.104124296T>G | GRCh38 |
| NC_000010.10:g.105884054T>G , CM000672.1:g.105884054T>G | GRCh37 |
| NC_000010.9:g.105874044T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369727.4:c.546+172T>G MANE Select | ENSP00000358742.3:n.546+172T>G | |
| ENST00000369727.3:c.546+172T>G | ENSP00000358742.3:n.546+172T>G | |
| ENST00000369729.7:c.507+172T>G | ENSP00000358744.3:n.507+172T>G | |
| NM_001002759.1:c.546+172T>G | NP_001002759.1:n.546+172T>G | |
| NM_145247.4:c.507+172T>G | NP_660290.3:n.507+172T>G | |
| XM_005269521.2:c.732+172T>G | XP_005269578.1:n.732+172T>G | |
| XM_005269521.3:c.732+172T>G | XP_005269578.1:n.732+172T>G | |
| XM_017015672.1:c.507+172T>G | XP_016871161.1:n.507+172T>G | |
| NM_001002759.2:c.546+172T>G MANE Select | NP_001002759.1:n.546+172T>G | |
| NM_001384829.1:c.507+172T>G | NP_001371758.1:n.507+172T>G | |
| NM_001384830.1:c.507+172T>G | NP_001371759.1:n.507+172T>G | |
| NM_145247.5:c.507+172T>G | NP_660290.3:n.507+172T>G |