Linked Data
ClinVar Variation Id:
639999
ClinVar RCV Id:
RCV000792932
dbSNP Id:
rs199475696
ERepo:
CA16020986/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102840453A>C , CM000674.2:g.102840453A>C | GRCh38 |
| NC_000012.11:g.103234231A>C , CM000674.1:g.103234231A>C | GRCh37 |
| NC_000012.10:g.101758361A>C | NCBI36 |
| NG_008690.1:g.82150T>G | |
| NG_008690.2:g.122958T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1262T>G MANE Select | ENSP00000448059.1:p.Ile421Ser | |
| ENST00000307000.7:c.1247T>G | ENSP00000303500.2:p.Ile416Ser | |
| ENST00000551114.2:n.924T>G | ||
| ENST00000553106.5:c.1262T>G | ENSP00000448059.1:p.Ile421Ser | |
| ENST00000635477.1:c.366T>G | ||
| ENST00000635528.1:n.777T>G | ||
| NM_000277.1:c.1262T>G | NP_000268.1:p.Ile421Ser | |
| XM_011538422.1:c.1205T>G | XP_011536724.1:p.Ile402Ser | |
| NM_000277.2:c.1262T>G | NP_000268.1:p.Ile421Ser | |
| NM_001354304.1:c.1262T>G | NP_001341233.1:p.Ile421Ser | |
| NM_000277.3:c.1262T>G MANE Select | NP_000268.1:p.Ile421Ser | |
| NM_001354304.2:c.1262T>G | NP_001341233.1:p.Ile421Ser |