Linked Data
dbSNP Id:
rs774650020
ExAC:
1:196716320 G / A
gnomAD v2:
1-196716320-G-A
gnomAD v3:
1-196747190-G-A
gnomAD v4:
1-196747190-G-A
COSMIC:
COSM901547
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196747190G>A , CM000663.2:g.196747190G>A | GRCh38 |
| NC_000001.10:g.196716320G>A , CM000663.1:g.196716320G>A | GRCh37 |
| NC_000001.9:g.194982943G>A | NCBI36 |
| NG_007259.1:g.100180G>A , LRG_47:g.100180G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470918.2:n.4601G>A | ||
| ENST00000695970.1:c.3399G>A | ENSP00000512297.1:p.Ser1133= | |
| ENST00000695971.1:c.3552G>A | ENSP00000512298.1:p.Ser1184= | |
| ENST00000695972.1:c.*650G>A | ENSP00000512299.1:n.*650G>A | |
| ENST00000695973.1:c.*1937G>A | ENSP00000512300.1:n.*1937G>A | |
| ENST00000695974.1:c.3396G>A | ENSP00000512301.1:p.Ser1132= | |
| ENST00000695975.1:c.*1700G>A | ENSP00000512302.1:n.*1700G>A | |
| ENST00000695976.1:c.3384G>A | ENSP00000512303.1:p.Ser1128= | |
| ENST00000695981.1:c.3573G>A | ENSP00000512306.1:p.Ser1191= | |
| ENST00000695984.1:c.1581G>A | ENSP00000512309.1:p.Ser527= | |
| ENST00000695986.1:c.*3224G>A | ENSP00000512311.1:n.*3224G>A | |
| ENST00000695990.1:n.607G>A | ||
| ENST00000696026.1:c.*1855G>A | ENSP00000512335.1:n.*1855G>A | |
| ENST00000696027.1:c.3567G>A | ENSP00000512336.1:p.Ser1189= | |
| ENST00000696028.1:c.3501G>A | ENSP00000512337.1:p.Ser1167= | |
| ENST00000696029.1:c.3567G>A | ENSP00000512338.1:p.Ser1189= | |
| ENST00000696031.1:c.*3091G>A | ENSP00000512340.1:n.*3091G>A | |
| ENST00000696032.1:c.3573G>A | ENSP00000512341.1:p.Ser1191= | |
| ENST00000696033.1:c.1160-32607G>A | ENSP00000512342.1:n.1160-32607G>A | |
| ENST00000367429.9:c.3573G>A MANE Select | ENSP00000356399.4:p.Ser1191= | |
| ENST00000367429.8:c.3573G>A | ENSP00000356399.4:p.Ser1191= | |
| ENST00000466229.5:n.6671G>A | ||
| NM_000186.3:c.3573G>A , LRG_47t1:c.3573G>A | NP_000177.2:p.Ser1191= | |
| XR_001737134.2:n.3759G>A | ||
| NM_000186.4:c.3573G>A MANE Select | NP_000177.2:p.Ser1191= |