Linked Data
ClinVar Variation Id:
225427
ClinVar RCV Id:
RCV000490273
dbSNP Id:
rs1085307083
gnomAD v3:
2-147975958-T-C
gnomAD v4:
2-147975958-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.147975958T>C , CM000664.2:g.147975958T>C | GRCh38 |
| NC_000002.11:g.148733527T>C , CM000664.1:g.148733527T>C | GRCh37 |
| NC_000002.10:g.148449997T>C | NCBI36 |
| NG_028252.1:g.50647A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000392857.10:c.1A>G MANE Select | ENSP00000376597.5:p.Met1Val | |
| ENST00000264169.6:c.1A>G | ENSP00000264169.2:p.Met1Val | |
| ENST00000392857.9:c.1A>G | ENSP00000376597.4:p.Met1Val | |
| ENST00000416719.5:c.1A>G | ENSP00000413939.1:p.Met1Val | |
| ENST00000440042.1:c.1A>G | ENSP00000403105.1:p.Met1Val | |
| ENST00000457954.5:c.1A>G | ENSP00000391484.1:p.Met1Val | |
| ENST00000461711.5:n.130-17092A>G | ||
| ENST00000490200.5:n.132-2434A>G | ||
| ENST00000495601.1:n.112A>G | ||
| ENST00000535373.5:c.1A>G | ENSP00000441953.1:p.Met1Val | |
| ENST00000536575.5:c.-27-17092A>G | ENSP00000441502.1:n.-27-17092A>G | |
| ENST00000540442.5:c.-165-2434A>G | ENSP00000438326.1:n.-165-2434A>G | |
| NM_001190879.2:c.1A>G | NP_001177808.1:p.Met1Val | |
| NM_001190881.2:c.-27-17092A>G | NP_001177810.1:n.-27-17092A>G | |
| NM_001190882.2:c.-165-2434A>G | NP_001177811.1:n.-165-2434A>G | |
| NM_002552.4:c.1A>G | NP_002543.2:p.Met1Val | |
| NM_181741.3:c.1A>G | NP_859525.1:p.Met1Val | |
| NM_181742.3:c.1A>G | NP_859526.1:p.Met1Val | |
| XM_006712556.2:c.-260-2434A>G | XP_006712619.1:n.-260-2434A>G | |
| XM_011511255.1:c.1A>G | XP_011509557.1:p.Met1Val | |
| XM_011511255.2:c.1A>G | XP_011509557.1:p.Met1Val | |
| XM_017004226.2:c.1A>G | XP_016859715.1:p.Met1Val | |
| XM_024452929.1:c.-317A>G | XP_024308697.1:n.-317A>G | |
| NM_001374270.1:c.1A>G | NP_001361199.1:p.Met1Val | |
| NM_001374272.1:c.-317A>G | NP_001361201.1:n.-317A>G | |
| NM_002552.5:c.1A>G | NP_002543.2:p.Met1Val | |
| NM_181741.4:c.1A>G MANE Select | NP_859525.1:p.Met1Val | |
| NM_001190879.3:c.1A>G | NP_001177808.1:p.Met1Val | |
| NM_001190881.3:c.-27-17092A>G | NP_001177810.1:n.-27-17092A>G | |
| NM_001190882.3:c.-165-2434A>G | NP_001177811.1:n.-165-2434A>G | |
| NM_181742.4:c.1A>G | NP_859526.1:p.Met1Val |