Linked Data
ClinVar Variation Id:
336201
ClinVar RCV Id:
RCV000334646
dbSNP Id:
rs886056069
gnomAD v2:
2-44531345-A-G
gnomAD v4:
2-44304206-A-G
COSMIC:
COSM1021094
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.44304206A>G , CM000664.2:g.44304206A>G | GRCh38 |
| NC_000002.11:g.44531345A>G , CM000664.1:g.44531345A>G | GRCh37 |
| NC_000002.10:g.44384849A>G | NCBI36 |
| NG_008233.1:g.33749A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260649.11:c.1200A>G MANE Select | ENSP00000260649.6:p.Pro400= | |
| ENST00000649044.1:c.*1211A>G | ENSP00000497083.1:n.*1211A>G | |
| ENST00000260649.10:c.1200A>G | ENSP00000260649.6:p.Pro400= | |
| ENST00000409229.7:c.1200A>G | ENSP00000386620.3:p.Pro400= | |
| ENST00000409294.5:c.60A>G | ENSP00000386852.1:p.Pro20= | |
| ENST00000409380.5:c.366A>G | ENSP00000386709.1:p.Pro122= | |
| ENST00000409387.5:c.1200A>G | ENSP00000387308.1:p.Pro400= | |
| ENST00000409740.3:c.93A>G | ENSP00000386677.3:p.Pro31= | |
| ENST00000409741.5:c.1200A>G | ENSP00000386954.1:p.Pro400= | |
| ENST00000611973.4:c.1200A>G | ENSP00000483618.1:p.Pro400= | |
| NM_000341.3:c.1200A>G | NP_000332.2:p.Pro400= | |
| XM_011533047.1:c.1200A>G | XP_011531349.1:p.Pro400= | |
| XM_011533047.3:c.1200A>G | XP_011531349.1:p.Pro400= | |
| NM_000341.4:c.1200A>G MANE Select | NP_000332.2:p.Pro400= |