Linked Data
dbSNP Id:
rs774901980
ExAC:
1:202704703 G / A
gnomAD v2:
1-202704703-G-A
gnomAD v3:
1-202735575-G-A
gnomAD v4:
1-202735575-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.202735575G>A , CM000663.2:g.202735575G>A | GRCh38 |
| NC_000001.10:g.202704703G>A , CM000663.1:g.202704703G>A | GRCh37 |
| NC_000001.9:g.200971326G>A | NCBI36 |
| NG_050659.1:g.78833C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235790.9:c.2803C>T | ENSP00000235790.4:p.Arg935Ter | |
| ENST00000367264.7:c.3385C>T | ENSP00000356233.2:p.Arg1129Ter | |
| ENST00000367265.9:c.3277C>T MANE Select | ENSP00000356234.3:p.Arg1093Ter | |
| ENST00000498276.2:n.1363C>T | ||
| ENST00000647757.1:n.3163C>T | ||
| ENST00000648056.1:c.3262C>T | ENSP00000497113.1:p.Arg1088Ter | |
| ENST00000648338.1:c.3277C>T | ENSP00000497564.1:p.Arg1093Ter | |
| ENST00000648469.1:c.3154C>T | ENSP00000497827.1:p.Arg1052Ter | |
| ENST00000648473.1:c.3277C>T | ENSP00000497743.1:p.Arg1093Ter | |
| ENST00000649089.1:c.1321C>T | ||
| ENST00000649230.1:n.2503C>T | ||
| ENST00000649388.1:n.41C>T | ||
| ENST00000649400.1:n.1009C>T | ||
| ENST00000649542.1:n.3160C>T | ||
| ENST00000649770.1:c.3154C>T | ENSP00000497288.1:p.Arg1052Ter | |
| ENST00000650417.1:c.*2703C>T | ENSP00000497297.1:n.*2703C>T | |
| ENST00000650422.1:n.3560C>T | ||
| ENST00000650506.1:n.1453C>T | ||
| ENST00000650569.1:c.3142C>T | ENSP00000497671.1:p.Arg1048Ter | |
| ENST00000235790.8:c.2803C>T | ENSP00000235790.4:p.Arg935Ter | |
| ENST00000367264.6:c.3385C>T | ENSP00000356233.2:p.Arg1129Ter | |
| ENST00000367265.7:c.3277C>T | ENSP00000356234.3:p.Arg1093Ter | |
| ENST00000472822.5:n.37C>T | ||
| NM_001314042.1:c.3385C>T | NP_001300971.1:p.Arg1129Ter | |
| NM_006618.3:c.3277C>T | NP_006609.3:p.Arg1093Ter | |
| NM_006618.4:c.3277C>T | NP_006609.3:p.Arg1093Ter | |
| XM_011509087.1:c.3385C>T | XP_011507389.1:p.Arg1129Ter | |
| XM_011509088.1:c.3142C>T | XP_011507390.1:p.Arg1048Ter | |
| XM_011509089.1:c.3304C>T | XP_011507391.1:p.Arg1102Ter | |
| XM_011509090.1:c.2911C>T | XP_011507392.1:p.Arg971Ter | |
| XM_011509091.1:c.2911C>T | XP_011507393.1:p.Arg971Ter | |
| XM_011509092.1:c.2803C>T | XP_011507394.1:p.Arg935Ter | |
| NM_001347591.1:c.3142C>T | NP_001334520.1:p.Arg1048Ter | |
| XM_011509090.3:c.2911C>T | XP_011507392.1:p.Arg971Ter | |
| XM_011509091.2:c.2911C>T | XP_011507393.1:p.Arg971Ter | |
| XM_011509092.2:c.2803C>T | XP_011507394.1:p.Arg935Ter | |
| NM_006618.5:c.3277C>T MANE Select | NP_006609.3:p.Arg1093Ter | |
| NM_001314042.2:c.3385C>T | NP_001300971.1:p.Arg1129Ter | |
| NM_001347591.2:c.3142C>T | NP_001334520.1:p.Arg1048Ter | |
| NM_001399817.1:c.3262C>T | NP_001386746.1:p.Arg1088Ter |