Linked Data
dbSNP Id:
rs763445550
ExAC:
1:196716371 A / G
gnomAD v2:
1-196716371-A-G
gnomAD v4:
1-196747241-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196747241A>G , CM000663.2:g.196747241A>G | GRCh38 |
| NC_000001.10:g.196716371A>G , CM000663.1:g.196716371A>G | GRCh37 |
| NC_000001.9:g.194982994A>G | NCBI36 |
| NG_007259.1:g.100231A>G , LRG_47:g.100231A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470918.2:n.4652A>G | ||
| ENST00000695970.1:c.3450A>G | ENSP00000512297.1:p.Ser1150= | |
| ENST00000695971.1:c.3603A>G | ENSP00000512298.1:p.Ser1201= | |
| ENST00000695972.1:c.*701A>G | ENSP00000512299.1:n.*701A>G | |
| ENST00000695973.1:c.*1988A>G | ENSP00000512300.1:n.*1988A>G | |
| ENST00000695974.1:c.3447A>G | ENSP00000512301.1:p.Ser1149= | |
| ENST00000695975.1:c.*1751A>G | ENSP00000512302.1:n.*1751A>G | |
| ENST00000695976.1:c.3435A>G | ENSP00000512303.1:p.Ser1145= | |
| ENST00000695981.1:c.3580+44A>G | ENSP00000512306.1:n.3580+44A>G | |
| ENST00000695984.1:c.1632A>G | ENSP00000512309.1:p.Ser544= | |
| ENST00000695986.1:c.*3275A>G | ENSP00000512311.1:n.*3275A>G | |
| ENST00000695990.1:n.658A>G | ||
| ENST00000696026.1:c.*1906A>G | ENSP00000512335.1:n.*1906A>G | |
| ENST00000696027.1:c.3618A>G | ENSP00000512336.1:p.Ser1206= | |
| ENST00000696028.1:c.3552A>G | ENSP00000512337.1:p.Ser1184= | |
| ENST00000696029.1:c.3618A>G | ENSP00000512338.1:p.Ser1206= | |
| ENST00000696031.1:c.*3142A>G | ENSP00000512340.1:n.*3142A>G | |
| ENST00000696032.1:c.3580+44A>G | ENSP00000512341.1:n.3580+44A>G | |
| ENST00000696033.1:c.1160-32556A>G | ENSP00000512342.1:n.1160-32556A>G | |
| ENST00000367429.9:c.3624A>G MANE Select | ENSP00000356399.4:p.Ser1208= | |
| ENST00000367429.8:c.3624A>G | ENSP00000356399.4:p.Ser1208= | |
| ENST00000466229.5:n.6722A>G | ||
| NM_000186.3:c.3624A>G , LRG_47t1:c.3624A>G | NP_000177.2:p.Ser1208= | |
| XR_001737134.2:n.3810A>G | ||
| NM_000186.4:c.3624A>G MANE Select | NP_000177.2:p.Ser1208= |