Linked Data
dbSNP Id:
rs539292534
ExAC:
3:169514685 T / C
gnomAD v2:
3-169514685-T-C
gnomAD v3:
3-169796897-T-C
gnomAD v4:
3-169796897-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.169796897T>C , CM000665.2:g.169796897T>C | GRCh38 |
| NC_000003.11:g.169514685T>C , CM000665.1:g.169514685T>C | GRCh37 |
| NC_000003.10:g.170997379T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000446859.7:c.756A>G MANE Select | ENSP00000414635.1:p.Glu252= | |
| ENST00000446859.5:c.756A>G | ENSP00000414635.1:p.Glu252= | |
| ENST00000522080.5:n.733A>G | ||
| ENST00000522329.1:n.5A>G | ||
| ENST00000522526.6:c.660A>G | ENSP00000429278.2:p.Glu220= | |
| ENST00000522596.6:n.738A>G | ||
| ENST00000522830.5:c.573A>G | ENSP00000429593.1:p.Glu191= | |
| ENST00000524054.5:n.604A>G | ||
| ENST00000524327.5:n.556A>G | ||
| ENST00000528597.1:c.3A>G | ENSP00000436883.1:p.Glu1= | |
| ENST00000602774.1:n.142A>G | ||
| NM_001172779.1:c.756A>G | NP_001166250.1:p.Glu252= | |
| NM_001172780.1:c.756A>G | NP_001166251.1:p.Glu252= | |
| NM_153353.4:c.660A>G | NP_699184.2:p.Glu220= | |
| XM_005247133.2:c.573A>G | XP_005247190.1:p.Glu191= | |
| XM_006713508.2:c.702A>G | XP_006713571.1:p.Glu234= | |
| XM_011512442.1:c.753A>G | XP_011510744.1:p.Glu251= | |
| NM_001363888.1:c.573A>G | NP_001350817.1:p.Glu191= | |
| XM_006713508.4:c.702A>G | XP_006713571.1:p.Glu234= | |
| XM_011512442.2:c.753A>G | XP_011510744.1:p.Glu251= | |
| XM_017005746.1:c.570A>G | XP_016861235.1:p.Glu190= | |
| NM_001172779.2:c.756A>G MANE Select | NP_001166250.1:p.Glu252= | |
| NM_001172780.2:c.756A>G | NP_001166251.1:p.Glu252= | |
| NM_001363888.2:c.573A>G | NP_001350817.1:p.Glu191= | |
| NM_001370608.1:c.570A>G | NP_001357537.1:p.Glu190= | |
| NM_001370609.1:c.573A>G | NP_001357538.1:p.Glu191= | |
| NM_153353.5:c.660A>G | NP_699184.2:p.Glu220= |