Linked Data
dbSNP Id:
rs767016278
ExAC:
10:105794084 C / T
gnomAD v2:
10-105794084-C-T
gnomAD v4:
10-104034326-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104034326C>T , CM000672.2:g.104034326C>T | GRCh38 |
| NC_000010.10:g.105794084C>T , CM000672.1:g.105794084C>T | GRCh37 |
| NC_000010.9:g.105784074C>T | NCBI36 |
| NG_007069.1:g.56555G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369733.8:c.3529G>A | ENSP00000358748.3:p.Val1177Met | |
| ENST00000648076.2:c.3775G>A MANE Select | ENSP00000497653.1:p.Val1259Met | |
| ENST00000353479.9:c.3775G>A | ENSP00000340937.5:p.Val1259Met | |
| ENST00000369733.7:c.3529G>A | ENSP00000358748.3:p.Val1177Met | |
| NM_000494.3:c.3775G>A | NP_000485.3:p.Val1259Met | |
| NM_000494.4:c.3775G>A MANE Select | NP_000485.3:p.Val1259Met |