Linked Data
ClinVar Variation Id:
500139
dbSNP Id:
rs144934076
ExAC:
2:96952155 G / C
gnomAD v2:
2-96952155-G-C
gnomAD v3:
2-96286417-G-C
gnomAD v4:
2-96286417-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96286417G>C , CM000664.2:g.96286417G>C | GRCh38 |
| NC_000002.11:g.96952155G>C , CM000664.1:g.96952155G>C | GRCh37 |
| NC_000002.10:g.96315882G>C | NCBI36 |
| NG_016973.1:g.24143C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323853.10:c.3897C>G MANE Select | ENSP00000317123.5:p.Thr1299= | |
| ENST00000652267.1:c.3897C>G | ENSP00000498933.1:p.Thr1299= | |
| ENST00000323853.9:c.3897C>G | ENSP00000317123.5:p.Thr1299= | |
| ENST00000480615.1:n.1014C>G | ||
| NM_014014.4:c.3897C>G | NP_054733.2:p.Thr1299= | |
| NM_014014.5:c.3897C>G MANE Select | NP_054733.2:p.Thr1299= |