Linked Data
ClinVar Variation Id:
2730429
ClinVar RCV Id:
RCV003579710
dbSNP Id:
rs1302419050
gnomAD v2:
1-171076938-A-T
gnomAD v4:
1-171107797-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171107797A>T , CM000663.2:g.171107797A>T | GRCh38 |
| NC_000001.10:g.171076938A>T , CM000663.1:g.171076938A>T | GRCh37 |
| NC_000001.9:g.169343562A>T | NCBI36 |
| NG_012690.1:g.21921A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367755.9:c.444A>T MANE Select | ENSP00000356729.4:p.Gly148= | |
| ENST00000367755.8:c.444A>T | ENSP00000356729.4:p.Gly148= | |
| ENST00000479749.1:c.444A>T | ENSP00000477451.1:p.Gly148= | |
| NM_001002294.2:c.444A>T | NP_001002294.1:p.Gly148= | |
| NM_006894.5:c.444A>T | NP_008825.4:p.Gly148= | |
| XM_005245044.1:c.255A>T | XP_005245101.1:p.Gly85= | |
| XM_011509345.1:c.384A>T | XP_011507647.1:p.Gly128= | |
| XM_011509346.1:c.384A>T | XP_011507648.1:p.Gly128= | |
| NM_001319173.1:c.384A>T | NP_001306102.1:p.Gly128= | |
| NM_001319174.1:c.255A>T | NP_001306103.1:p.Gly85= | |
| XM_011509345.3:c.384A>T | XP_011507647.1:p.Gly128= | |
| XM_024454365.1:c.-104A>T | XP_024310133.1:n.-104A>T | |
| NM_001002294.3:c.444A>T MANE Select | NP_001002294.1:p.Gly148= | |
| NM_001319173.2:c.384A>T | NP_001306102.1:p.Gly128= | |
| NM_001319174.2:c.255A>T | NP_001306103.1:p.Gly85= | |
| NM_006894.6:c.444A>T | NP_008825.4:p.Gly148= |