Linked Data
ClinVar Variation Id:
289975
dbSNP Id:
rs754770911
gnomAD v3:
7-87402098-A-G
gnomAD v4:
7-87402098-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87402098A>G , CM000669.2:g.87402098A>G | GRCh38 |
| NC_000007.13:g.87031414A>G , CM000669.1:g.87031414A>G | GRCh37 |
| NC_000007.12:g.86869350A>G | NCBI36 |
| NG_007118.1:g.83335T>C | |
| NG_007118.2:g.83335T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359206.8:c.3838T>C | ENSP00000352135.3:p.Ter1280Arg | |
| ENST00000649586.2:c.3838T>C MANE Select | ENSP00000496956.2:p.Ter1280Arg | |
| ENST00000265723.8:c.3859T>C | ENSP00000265723.4:p.Ter1287Arg | |
| ENST00000358400.7:c.3697T>C | ENSP00000351172.3:p.Ter1233Arg | |
| ENST00000359206.7:c.3838T>C | ENSP00000352135.3:p.Ter1280Arg | |
| ENST00000440025.1:c.241+31T>C | ||
| ENST00000453593.5:c.3697T>C | ENSP00000392983.1:p.Ter1233Arg | |
| NM_000443.3:c.3838T>C | NP_000434.1:p.Ter1280Arg | |
| NM_018849.2:c.3859T>C | NP_061337.1:p.Ter1287Arg | |
| NM_018850.2:c.3697T>C | NP_061338.1:p.Ter1233Arg | |
| XM_011516308.1:c.3859T>C | XP_011514610.1:p.Ter1287Arg | |
| XM_011516309.1:c.3838T>C | XP_011514611.1:p.Ter1280Arg | |
| XM_011516310.1:c.3754T>C | XP_011514612.1:p.Ter1252Arg | |
| XM_011516311.1:c.3730T>C | XP_011514613.1:p.Ter1244Arg | |
| XM_011516312.1:c.3718T>C | XP_011514614.1:p.Ter1240Arg | |
| XM_011516313.1:c.3697T>C | XP_011514615.1:p.Ter1233Arg | |
| XM_011516314.1:c.3880T>C | XP_011514616.1:p.Ter1294Arg | |
| XM_011516315.1:c.3199T>C | XP_011514617.1:p.Ter1067Arg | |
| XM_011516308.3:c.4098+31T>C | XP_011514610.3:n.4098+31T>C | |
| XM_011516309.3:c.4077+31T>C | XP_011514611.3:n.4077+31T>C | |
| XM_011516310.3:c.3993+31T>C | XP_011514612.3:n.3993+31T>C | |
| XM_011516311.3:c.3969+31T>C | XP_011514613.3:n.3969+31T>C | |
| XM_011516312.3:c.3957+31T>C | XP_011514614.3:n.3957+31T>C | |
| XM_011516313.3:c.3967T>C | XP_011514615.2:p.Ter1323Arg | |
| XM_011516315.3:c.3168+31T>C | XP_011514617.2:n.3168+31T>C | |
| XM_017012323.2:c.3828+31T>C | XP_016867812.1:n.3828+31T>C | |
| NM_000443.4:c.3838T>C MANE Select | NP_000434.1:p.Ter1280Arg | |
| NM_018849.3:c.3859T>C | NP_061337.1:p.Ter1287Arg | |
| NM_018850.3:c.3697T>C | NP_061338.1:p.Ter1233Arg |