Linked Data
dbSNP Id:
rs757454955
ExAC:
10:104594715 T / C
gnomAD v2:
10-104594715-T-C
gnomAD v4:
10-102834958-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102834958T>C , CM000672.2:g.102834958T>C | GRCh38 |
| NC_000010.10:g.104594715T>C , CM000672.1:g.104594715T>C | GRCh37 |
| NC_000010.9:g.104584705T>C | NCBI36 |
| NG_007955.1:g.7576A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369887.4:c.493A>G MANE Select | ENSP00000358903.3:p.Ile165Val | |
| ENST00000638190.1:c.493A>G | ENSP00000492539.1:p.Ile165Val | |
| ENST00000638272.1:c.298-1750A>G | ENSP00000491508.1:n.298-1750A>G | |
| ENST00000638971.1:c.493A>G | ENSP00000492313.1:p.Ile165Val | |
| ENST00000639393.1:c.493A>G | ENSP00000492651.1:p.Ile165Val | |
| ENST00000640633.1:n.255A>G | ||
| ENST00000369887.3:c.493A>G | ENSP00000358903.3:p.Ile165Val | |
| ENST00000489268.1:n.747A>G | ||
| NM_000102.3:c.493A>G | NP_000093.1:p.Ile165Val | |
| NM_000102.4:c.493A>G MANE Select | NP_000093.1:p.Ile165Val |