Linked Data
ClinVar Variation Id:
1419961
ClinVar RCV Id:
RCV001910751
dbSNP Id:
rs1026866240
gnomAD v2:
9-130699732-G-C
gnomAD v3:
9-127937453-G-C
gnomAD v4:
9-127937453-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127937453G>C , CM000671.2:g.127937453G>C | GRCh38 |
| NC_000009.11:g.130699732G>C , CM000671.1:g.130699732G>C | GRCh37 |
| NC_000009.10:g.129739553G>C | NCBI36 |
| NG_032927.1:g.6032C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314392.13:c.74C>G MANE Select | ENSP00000322181.8:p.Thr25Ser | |
| ENST00000314392.12:c.74C>G | ENSP00000322181.8:p.Thr25Ser | |
| ENST00000373110.4:c.74C>G | ENSP00000362202.4:p.Thr25Ser | |
| ENST00000470181.1:n.366C>G | ||
| ENST00000473360.1:n.327C>G | ||
| ENST00000495270.1:n.80C>G | ||
| NM_003863.3:c.74C>G | NP_003854.1:p.Thr25Ser | |
| NM_003863.4:c.74C>G MANE Select | NP_003854.1:p.Thr25Ser | |
| NM_001378436.1:c.74C>G | NP_001365365.1:p.Thr25Ser | |
| NM_001378437.1:c.3+365C>G | NP_001365366.1:n.3+365C>G | |
| NR_165631.1:n.108C>G | ||
| NR_165632.1:n.37+365C>G |