Linked Data
dbSNP Id:
rs781728966
ExAC:
11:68153830 G / T
gnomAD v2:
11-68153830-G-T
gnomAD v4:
11-68386362-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68386362G>T , CM000673.2:g.68386362G>T | GRCh38 |
| NC_000011.9:g.68153830G>T , CM000673.1:g.68153830G>T | GRCh37 |
| NC_000011.8:g.67910406G>T | NCBI36 |
| NG_015835.1:g.78723G>T | |
| NG_015835.2:g.78723G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294304.12:c.1062G>T MANE Select | ENSP00000294304.6:p.Arg354Ser | |
| ENST00000294304.11:c.1062G>T | ENSP00000294304.6:p.Arg354Ser | |
| ENST00000529993.5:c.1062G>T | ENSP00000436652.1:p.Arg354Ser | |
| NM_001291902.1:c.-704G>T | NP_001278831.1:n.-704G>T | |
| NM_002335.3:c.1062G>T | NP_002326.2:p.Arg354Ser | |
| XM_005273994.2:c.1062G>T | XP_005274051.1:p.Arg354Ser | |
| XM_011545029.1:c.1089G>T | XP_011543331.1:p.Arg363Ser | |
| XM_011545030.1:c.1089G>T | XP_011543332.1:p.Arg363Ser | |
| XM_011545031.1:c.1089G>T | XP_011543333.1:p.Arg363Ser | |
| XR_949925.1:n.1104G>T | ||
| XR_949926.1:n.1104G>T | ||
| XR_001747874.1:n.1104G>T | ||
| XR_949925.2:n.1104G>T | ||
| XR_949926.2:n.1104G>T | ||
| NM_002335.4:c.1062G>T MANE Select | NP_002326.2:p.Arg354Ser | |
| NM_001291902.2:c.-704G>T | NP_001278831.1:n.-704G>T |