Linked Data
dbSNP Id:
rs778857757
ExAC:
1:196716403 G / T
gnomAD v2:
1-196716403-G-T
gnomAD v4:
1-196747273-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196747273G>T , CM000663.2:g.196747273G>T | GRCh38 |
| NC_000001.10:g.196716403G>T , CM000663.1:g.196716403G>T | GRCh37 |
| NC_000001.9:g.194983026G>T | NCBI36 |
| NG_007259.1:g.100263G>T , LRG_47:g.100263G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470918.2:n.4684G>T | ||
| ENST00000695970.1:c.3482G>T | ENSP00000512297.1:p.Trp1161Leu | |
| ENST00000695971.1:c.3635G>T | ENSP00000512298.1:p.Trp1212Leu | |
| ENST00000695972.1:c.*733G>T | ENSP00000512299.1:n.*733G>T | |
| ENST00000695973.1:c.*2020G>T | ENSP00000512300.1:n.*2020G>T | |
| ENST00000695974.1:c.3479G>T | ENSP00000512301.1:p.Trp1160Leu | |
| ENST00000695975.1:c.*1783G>T | ENSP00000512302.1:n.*1783G>T | |
| ENST00000695976.1:c.3467G>T | ENSP00000512303.1:p.Trp1156Leu | |
| ENST00000695981.1:c.3580+76G>T | ENSP00000512306.1:n.3580+76G>T | |
| ENST00000695984.1:c.1664G>T | ENSP00000512309.1:p.Trp555Leu | |
| ENST00000695986.1:c.*3307G>T | ENSP00000512311.1:n.*3307G>T | |
| ENST00000695990.1:n.690G>T | ||
| ENST00000696026.1:c.*1938G>T | ENSP00000512335.1:n.*1938G>T | |
| ENST00000696027.1:c.3650G>T | ENSP00000512336.1:p.Trp1217Leu | |
| ENST00000696028.1:c.3584G>T | ENSP00000512337.1:p.Trp1195Leu | |
| ENST00000696029.1:c.3650G>T | ENSP00000512338.1:p.Trp1217Leu | |
| ENST00000696031.1:c.*3174G>T | ENSP00000512340.1:n.*3174G>T | |
| ENST00000696032.1:c.3580+76G>T | ENSP00000512341.1:n.3580+76G>T | |
| ENST00000696033.1:c.1160-32524G>T | ENSP00000512342.1:n.1160-32524G>T | |
| ENST00000367429.9:c.3656G>T MANE Select | ENSP00000356399.4:p.Trp1219Leu | |
| ENST00000367429.8:c.3656G>T | ENSP00000356399.4:p.Trp1219Leu | |
| ENST00000466229.5:n.6754G>T | ||
| NM_000186.3:c.3656G>T , LRG_47t1:c.3656G>T | NP_000177.2:p.Trp1219Leu | |
| XR_001737134.2:n.3842G>T | ||
| NM_000186.4:c.3656G>T MANE Select | NP_000177.2:p.Trp1219Leu |