Linked Data
dbSNP Id:
rs1205697518
gnomAD v2:
17-39780498-C-T
gnomAD v3:
17-41624246-C-T
gnomAD v4:
17-41624246-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624246C>T , CM000679.2:g.41624246C>T | GRCh38 |
| NC_000017.10:g.39780498C>T , CM000679.1:g.39780498C>T | GRCh37 |
| NC_000017.9:g.37034024C>T | NCBI36 |
| NG_008625.1:g.5385G>A | |
| NG_009090.2:g.167467G>A , LRG_401:g.167467G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.264G>A MANE Select | ENSP00000308452.8:p.Met88Ile | |
| ENST00000311208.12:c.264G>A | ENSP00000308452.8:p.Met88Ile | |
| ENST00000463128.5:c.-312-40G>A | ENSP00000468672.1:n.-312-40G>A | |
| ENST00000491673.1:n.330G>A | ||
| ENST00000493253.5:n.51G>A | ||
| ENST00000540235.5:c.59G>A | ENSP00000441751.2:p.Cys20Tyr | |
| ENST00000577817.3:c.219G>A | ENSP00000467418.1:p.Met73Ile | |
| NM_000422.2:c.264G>A | NP_000413.1:p.Met88Ile | |
| NM_000422.3:c.264G>A MANE Select | NP_000413.1:p.Met88Ile |