Linked Data
dbSNP Id:
rs139571122
ExAC:
1:196712619 T / G
gnomAD v3:
1-196743489-T-G
gnomAD v4:
1-196743489-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196743489T>G , CM000663.2:g.196743489T>G | GRCh38 |
| NC_000001.10:g.196712619T>G , CM000663.1:g.196712619T>G | GRCh37 |
| NC_000001.9:g.194979242T>G | NCBI36 |
| NG_007259.1:g.96479T>G , LRG_47:g.96479T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470918.2:n.4199T>G | ||
| ENST00000695970.1:c.2997T>G | ENSP00000512297.1:p.Ala999= | |
| ENST00000695971.1:c.3150T>G | ENSP00000512298.1:p.Ala1050= | |
| ENST00000695972.1:c.*248T>G | ENSP00000512299.1:n.*248T>G | |
| ENST00000695973.1:c.*1535T>G | ENSP00000512300.1:n.*1535T>G | |
| ENST00000695974.1:c.2994T>G | ENSP00000512301.1:p.Ala998= | |
| ENST00000695975.1:c.*1298T>G | ENSP00000512302.1:n.*1298T>G | |
| ENST00000695976.1:c.2982T>G | ENSP00000512303.1:p.Ala994= | |
| ENST00000695981.1:c.3171T>G | ENSP00000512306.1:p.Ala1057= | |
| ENST00000695984.1:c.1179T>G | ENSP00000512309.1:p.Ala393= | |
| ENST00000695986.1:c.*2822T>G | ENSP00000512311.1:n.*2822T>G | |
| ENST00000696026.1:c.*1453T>G | ENSP00000512335.1:n.*1453T>G | |
| ENST00000696027.1:c.3165T>G | ENSP00000512336.1:p.Ala1055= | |
| ENST00000696028.1:c.3099T>G | ENSP00000512337.1:p.Ala1033= | |
| ENST00000696029.1:c.3165T>G | ENSP00000512338.1:p.Ala1055= | |
| ENST00000696031.1:c.*2689T>G | ENSP00000512340.1:n.*2689T>G | |
| ENST00000696032.1:c.3171T>G | ENSP00000512341.1:p.Ala1057= | |
| ENST00000696033.1:c.1160-36308T>G | ENSP00000512342.1:n.1160-36308T>G | |
| ENST00000367429.9:c.3171T>G MANE Select | ENSP00000356399.4:p.Ala1057= | |
| ENST00000367429.8:c.3171T>G | ENSP00000356399.4:p.Ala1057= | |
| ENST00000466229.5:n.6269T>G | ||
| NM_000186.3:c.3171T>G , LRG_47t1:c.3171T>G | NP_000177.2:p.Ala1057= | |
| XR_001737134.2:n.3357T>G | ||
| NM_000186.4:c.3171T>G MANE Select | NP_000177.2:p.Ala1057= |