Linked Data
ClinVar Variation Id:
2986668
ClinVar RCV Id:
RCV003846323
dbSNP Id:
rs1475360701
gnomAD v2:
17-39780352-G-A
gnomAD v3:
17-41624100-G-A
gnomAD v4:
17-41624100-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624100G>A , CM000679.2:g.41624100G>A | GRCh38 |
| NC_000017.10:g.39780352G>A , CM000679.1:g.39780352G>A | GRCh37 |
| NC_000017.9:g.37033878G>A | NCBI36 |
| NG_008625.1:g.5531C>T | |
| NG_009090.2:g.167613C>T , LRG_401:g.167613C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.410C>T MANE Select | ENSP00000308452.8:p.Thr137Ile | |
| ENST00000311208.12:c.410C>T | ENSP00000308452.8:p.Thr137Ile | |
| ENST00000463128.5:c.-206C>T | ENSP00000468672.1:n.-206C>T | |
| ENST00000491673.1:n.476C>T | ||
| ENST00000493253.5:n.197C>T | ||
| ENST00000540235.5:c.161C>T | ENSP00000441751.2:p.Thr54Ile | |
| ENST00000577817.3:c.365C>T | ENSP00000467418.1:p.Thr122Ile | |
| NM_000422.2:c.410C>T | NP_000413.1:p.Thr137Ile | |
| NM_000422.3:c.410C>T MANE Select | NP_000413.1:p.Thr137Ile |