Linked Data
ClinVar Variation Id:
60547
dbSNP Id:
rs199922550
ExAC:
3:49759280 C / T
gnomAD v2:
3-49759280-C-T
gnomAD v3:
3-49721847-C-T
gnomAD v4:
3-49721847-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49721847C>T , CM000665.2:g.49721847C>T | GRCh38 |
| NC_000003.11:g.49759280C>T , CM000665.1:g.49759280C>T | GRCh37 |
| NC_000003.10:g.49734284C>T | NCBI36 |
| NG_011603.1:g.37291C>T | |
| NG_033731.1:g.7128G>A | |
| NG_033731.2:g.7128G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000308388.7:c.988G>A MANE Select | ENSP00000311130.6:p.Val330Ile | |
| ENST00000481959.2:n.1561G>A | ||
| ENST00000495627.2:c.1096G>A | ENSP00000503768.1:p.Val366Ile | |
| ENST00000677393.1:c.*5G>A | ENSP00000503880.1:n.*5G>A | |
| ENST00000678010.1:c.622G>A | ENSP00000503176.1:p.Val208Ile | |
| ENST00000678208.1:n.1422G>A | ||
| ENST00000678853.1:c.*279G>A | ENSP00000504692.1:n.*279G>A | |
| ENST00000308375.10:c.1069G>A | ENSP00000309092.6:p.Val357Ile | |
| ENST00000308388.6:c.988G>A | ENSP00000311130.6:p.Val330Ile | |
| ENST00000480687.5:c.988G>A | ENSP00000418565.1:p.Val330Ile | |
| NM_013334.3:c.1069G>A | NP_037466.2:p.Val357Ile | |
| NM_021971.2:c.988G>A | NP_068806.1:p.Val330Ile | |
| NM_021971.4:c.988G>A MANE Select | NP_068806.2:p.Val330Ile | |
| NM_013334.4:c.1069G>A | NP_037466.3:p.Val357Ile |