Linked Data
ClinVar Variation Id:
721621
ClinVar RCV Id:
RCV000895152
dbSNP Id:
rs1321988876
gnomAD v2:
11-67223233-G-T
gnomAD v4:
11-67455762-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67455762G>T , CM000673.2:g.67455762G>T | GRCh38 |
| NC_000011.9:g.67223233G>T , CM000673.1:g.67223233G>T | GRCh37 |
| NC_000011.8:g.66979809G>T | NCBI36 |
| NG_021211.1:g.5416G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325656.7:c.339G>T MANE Select | ENSP00000324960.5:p.Gly113= | |
| ENST00000325656.6:c.339G>T | ENSP00000324960.5:p.Gly113= | |
| ENST00000438189.6:c.-59G>T | ENSP00000401555.2:n.-59G>T | |
| ENST00000542025.2:n.736G>T | ||
| ENST00000545777.1:c.339G>T | ENSP00000439145.1:p.Gly113= | |
| NM_001300895.1:c.-45G>T | NP_001287824.1:n.-45G>T | |
| NM_001300896.1:c.-59G>T | NP_001287825.1:n.-59G>T | |
| NM_145200.3:c.339G>T | NP_660201.1:p.Gly113= | |
| XM_005274114.2:c.399G>T | XP_005274171.2:p.Gly133= | |
| XM_011545181.1:c.399G>T | XP_011543483.1:p.Gly133= | |
| XM_011545182.1:c.399G>T | XP_011543484.1:p.Gly133= | |
| XM_011545183.1:c.-59G>T | XP_011543485.1:n.-59G>T | |
| XM_011545184.1:c.-59G>T | XP_011543486.1:n.-59G>T | |
| XM_005274114.3:c.399G>T | XP_005274171.2:p.Gly133= | |
| XM_011545181.2:c.399G>T | XP_011543483.1:p.Gly133= | |
| XM_011545182.2:c.399G>T | XP_011543484.1:p.Gly133= | |
| XM_011545183.2:c.-59G>T | XP_011543485.1:n.-59G>T | |
| XM_017018025.1:c.-59G>T | XP_016873514.1:n.-59G>T | |
| XM_024448615.1:c.339G>T | XP_024304383.1:p.Gly113= | |
| XM_024448616.1:c.-45G>T | XP_024304384.1:n.-45G>T | |
| NM_001300895.2:c.-45G>T | NP_001287824.1:n.-45G>T | |
| NM_001300896.2:c.-59G>T | NP_001287825.1:n.-59G>T | |
| NM_145200.4:c.339G>T | NP_660201.1:p.Gly113= | |
| NM_001300895.3:c.-45G>T | NP_001287824.1:n.-45G>T | |
| NM_001300896.3:c.-59G>T | NP_001287825.1:n.-59G>T | |
| NM_001379183.1:c.-59G>T | NP_001366112.1:n.-59G>T | |
| NM_145200.5:c.339G>T MANE Select | NP_660201.1:p.Gly113= | |
| NR_166529.1:n.409G>T |