Linked Data
dbSNP Id:
rs747525421
ExAC:
10:105794068 A / G
gnomAD v2:
10-105794068-A-G
gnomAD v3:
10-104034310-A-G
gnomAD v4:
10-104034310-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104034310A>G , CM000672.2:g.104034310A>G | GRCh38 |
| NC_000010.10:g.105794068A>G , CM000672.1:g.105794068A>G | GRCh37 |
| NC_000010.9:g.105784058A>G | NCBI36 |
| NG_007069.1:g.56571T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369733.8:c.3545T>C | ENSP00000358748.3:p.Val1182Ala | |
| ENST00000648076.2:c.3791T>C MANE Select | ENSP00000497653.1:p.Val1264Ala | |
| ENST00000353479.9:c.3791T>C | ENSP00000340937.5:p.Val1264Ala | |
| ENST00000369733.7:c.3545T>C | ENSP00000358748.3:p.Val1182Ala | |
| NM_000494.3:c.3791T>C | NP_000485.3:p.Val1264Ala | |
| NM_000494.4:c.3791T>C MANE Select | NP_000485.3:p.Val1264Ala |