Linked Data
ClinVar Variation Id:
1169275
dbSNP Id:
rs1063499
ExAC:
5:40955561 G / C
gnomAD v2:
5-40955561-G-C
gnomAD v3:
5-40955459-G-C
gnomAD v4:
5-40955459-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.40955459G>C , CM000667.2:g.40955459G>C | GRCh38 |
| NC_000005.9:g.40955561G>C , CM000667.1:g.40955561G>C | GRCh37 |
| NC_000005.8:g.40991318G>C | NCBI36 |
| NG_011692.1:g.50963G>C , LRG_30:g.50963G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696333.1:c.1166G>C | ENSP00000512566.1:p.Ser389Thr | |
| ENST00000696441.1:c.1166G>C | ENSP00000512631.1:p.Ser389Thr | |
| ENST00000706664.1:n.1280G>C | ||
| ENST00000706666.1:n.1242G>C | ||
| ENST00000706667.1:n.2056G>C | ||
| ENST00000706668.1:n.1894G>C | ||
| ENST00000313164.10:c.1166G>C MANE Select | ENSP00000322061.9:p.Ser389Thr | |
| ENST00000313164.9:c.1166G>C | ENSP00000322061.9:p.Ser389Thr | |
| NM_000587.2:c.1166G>C , LRG_30t1:c.1166G>C | NP_000578.2:p.Ser389Thr | |
| XM_011514122.1:c.1166G>C | XP_011512424.1:p.Ser389Thr | |
| NM_000587.3:c.1166G>C | NP_000578.2:p.Ser389Thr | |
| NM_000587.4:c.1166G>C MANE Select | NP_000578.2:p.Ser389Thr |