Linked Data
dbSNP Id:
rs779605896
ExAC:
17:61683777 T / C
gnomAD v2:
17-61683777-T-C
gnomAD v3:
17-63606417-T-C
gnomAD v4:
17-63606417-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63606417T>C , CM000679.2:g.63606417T>C | GRCh38 |
| NC_000017.10:g.61683777T>C , CM000679.1:g.61683777T>C | GRCh37 |
| NC_000017.9:g.59037509T>C | NCBI36 |
| NG_016979.1:g.10547T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682060.1:n.254T>C | ||
| ENST00000684587.1:c.489T>C | ENSP00000507435.1:p.Ile163= | |
| ENST00000690765.1:c.*318T>C | ENSP00000510085.1:n.*318T>C | |
| ENST00000258975.7:c.492T>C MANE Select | ENSP00000258975.6:p.Ile164= | |
| ENST00000258975.6:c.492T>C | ENSP00000258975.6:p.Ile164= | |
| ENST00000581120.1:n.694T>C | ||
| NM_016360.3:c.492T>C | NP_057444.2:p.Ile164= | |
| NM_016360.4:c.492T>C MANE Select | NP_057444.2:p.Ile164= |