Linked Data
ClinVar Variation Id:
3660
dbSNP Id:
rs121908050
ExAC:
16:67976657 G / A
gnomAD v2:
16-67976657-G-A
gnomAD v3:
16-67942754-G-A
gnomAD v4:
16-67942754-G-A
PubMed:
PMID:2052566
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67942754G>A , CM000678.2:g.67942754G>A | GRCh38 |
| NC_000016.9:g.67976657G>A , CM000678.1:g.67976657G>A | GRCh37 |
| NC_000016.8:g.66534158G>A | NCBI36 |
| NG_009778.1:g.6359C>T | |
| NG_033098.1:g.30941C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264005.10:c.440C>T MANE Select | ENSP00000264005.5:p.Thr147Ile | |
| ENST00000264005.9:c.440C>T | ENSP00000264005.5:p.Thr147Ile | |
| ENST00000570369.5:c.155+107C>T | ||
| ENST00000570980.1:c.224C>T | ENSP00000464651.1:p.Thr75Ile | |
| ENST00000573538.5:c.83C>T | ENSP00000463220.1:p.Thr28Ile | |
| ENST00000573846.1:n.54C>T | ||
| ENST00000575277.1:n.218C>T | ||
| ENST00000575467.5:c.*135C>T | ENSP00000460653.1:n.*135C>T | |
| NM_000229.1:c.440C>T | NP_000220.1:p.Thr147Ile | |
| NM_000229.2:c.440C>T MANE Select | NP_000220.1:p.Thr147Ile |