Linked Data
dbSNP Id:
rs1481807973
gnomAD v2:
10-105794083-A-G
gnomAD v3:
10-104034325-A-G
gnomAD v4:
10-104034325-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104034325A>G , CM000672.2:g.104034325A>G | GRCh38 |
| NC_000010.10:g.105794083A>G , CM000672.1:g.105794083A>G | GRCh37 |
| NC_000010.9:g.105784073A>G | NCBI36 |
| NG_007069.1:g.56556T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369733.8:c.3530T>C | ENSP00000358748.3:p.Val1177Ala | |
| ENST00000648076.2:c.3776T>C MANE Select | ENSP00000497653.1:p.Val1259Ala | |
| ENST00000353479.9:c.3776T>C | ENSP00000340937.5:p.Val1259Ala | |
| ENST00000369733.7:c.3530T>C | ENSP00000358748.3:p.Val1177Ala | |
| NM_000494.3:c.3776T>C | NP_000485.3:p.Val1259Ala | |
| NM_000494.4:c.3776T>C MANE Select | NP_000485.3:p.Val1259Ala |