Linked Data
dbSNP Id:
rs17116350
ExAC:
10:105793750 T / G
gnomAD v2:
10-105793750-T-G
gnomAD v4:
10-104033992-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104033992T>G , CM000672.2:g.104033992T>G | GRCh38 |
| NC_000010.10:g.105793750T>G , CM000672.1:g.105793750T>G | GRCh37 |
| NC_000010.9:g.105783740T>G | NCBI36 |
| NG_007069.1:g.56889A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369733.8:c.3863A>C | ENSP00000358748.3:p.Asp1288Ala | |
| ENST00000647647.1:c.139A>C | ||
| ENST00000648076.2:c.4109A>C MANE Select | ENSP00000497653.1:p.Asp1370Ala | |
| ENST00000353479.9:c.4109A>C | ENSP00000340937.5:p.Asp1370Ala | |
| ENST00000369733.7:c.3863A>C | ENSP00000358748.3:p.Asp1288Ala | |
| NM_000494.3:c.4109A>C | NP_000485.3:p.Asp1370Ala | |
| NM_000494.4:c.4109A>C MANE Select | NP_000485.3:p.Asp1370Ala |