Linked Data
dbSNP Id:
rs766192723
ExAC:
3:123003579 G / C
gnomAD v2:
3-123003579-G-C
gnomAD v4:
3-123284732-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.123284732G>C , CM000665.2:g.123284732G>C | GRCh38 |
| NC_000003.11:g.123003579G>C , CM000665.1:g.123003579G>C | GRCh37 |
| NC_000003.10:g.124486269G>C | NCBI36 |
| NG_033882.1:g.168814C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000466617.6:c.2339C>G | ENSP00000420082.2:p.Thr780Ser | |
| ENST00000470367.2:c.2627C>G | ENSP00000514541.1:p.Thr876Ser | |
| ENST00000483566.2:c.2339C>G | ENSP00000420252.2:p.Thr780Ser | |
| ENST00000699714.1:c.2339C>G | ENSP00000514539.1:p.Thr780Ser | |
| ENST00000699715.1:c.2339C>G | ENSP00000514540.1:p.Thr780Ser | |
| ENST00000699716.1:c.2339C>G | ENSP00000514542.1:p.Thr780Ser | |
| ENST00000699717.1:n.2065C>G | ||
| ENST00000699718.1:c.3737C>G | ENSP00000514543.1:p.Thr1246Ser | |
| ENST00000462833.6:c.3662C>G MANE Select | ENSP00000419361.1:p.Thr1221Ser | |
| ENST00000309879.9:c.2612C>G | ENSP00000308685.5:p.Thr871Ser | |
| ENST00000462833.5:c.3662C>G | ENSP00000419361.1:p.Thr1221Ser | |
| ENST00000478092.1:n.432C>G | ||
| ENST00000491190.5:c.2636C>G | ENSP00000418537.1:p.Thr879Ser | |
| NM_001199642.1:c.2612C>G | NP_001186571.1:p.Thr871Ser | |
| NM_183357.2:c.3662C>G | NP_899200.1:p.Thr1221Ser | |
| XM_005247077.2:c.3737C>G | XP_005247134.1:p.Thr1246Ser | |
| XM_005247078.1:c.2687C>G | XP_005247135.1:p.Thr896Ser | |
| XM_006713483.1:c.2636C>G | XP_006713546.1:p.Thr879Ser | |
| XM_006713484.1:c.2414C>G | XP_006713547.1:p.Thr805Ser | |
| XM_011512359.1:c.2738C>G | XP_011510661.1:p.Thr913Ser | |
| XM_011512360.1:c.2648C>G | XP_011510662.1:p.Thr883Ser | |
| XM_011512361.1:c.2414C>G | XP_011510663.1:p.Thr805Ser | |
| XM_005247077.4:c.3737C>G | XP_005247134.1:p.Thr1246Ser | |
| XM_011512359.2:c.2738C>G | XP_011510661.1:p.Thr913Ser | |
| XM_011512360.3:c.2648C>G | XP_011510662.1:p.Thr883Ser | |
| XM_017005638.1:c.2639C>G | XP_016861127.1:p.Thr880Ser | |
| XM_017005639.1:c.2639C>G | XP_016861128.1:p.Thr880Ser | |
| NM_001378259.1:c.3737C>G | NP_001365188.1:p.Thr1246Ser | |
| NM_183357.3:c.3662C>G MANE Select | NP_899200.1:p.Thr1221Ser |