Linked Data
dbSNP Id:
rs779913331
ExAC:
2:238275494 C / G
gnomAD v2:
2-238275494-C-G
gnomAD v4:
2-237366851-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237366851C>G , CM000664.2:g.237366851C>G | GRCh38 |
| NC_000002.11:g.238275494C>G , CM000664.1:g.238275494C>G | GRCh37 |
| NC_000002.10:g.237940233C>G | NCBI36 |
| NG_008676.1:g.52357G>C , LRG_473:g.52357G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353578.9:c.4718G>C | ENSP00000315873.4:p.Arg1573Thr | |
| ENST00000295550.9:c.5336G>C MANE Select | ENSP00000295550.4:p.Arg1779Thr | |
| ENST00000295550.8:c.5336G>C | ENSP00000295550.4:p.Arg1779Thr | |
| ENST00000347401.7:c.3515G>C | ENSP00000315609.4:p.Arg1172Thr | |
| ENST00000353578.8:c.4718G>C | ENSP00000315873.4:p.Arg1573Thr | |
| ENST00000409809.5:c.4718G>C | ENSP00000386844.1:p.Arg1573Thr | |
| ENST00000472056.5:c.3515G>C | ENSP00000418285.1:p.Arg1172Thr | |
| NM_004369.3:c.5336G>C , LRG_473t1:c.5336G>C | NP_004360.2:p.Arg1779Thr | |
| NM_057166.4:c.3515G>C | NP_476507.3:p.Arg1172Thr | |
| NM_057167.3:c.4718G>C | NP_476508.2:p.Arg1573Thr | |
| XM_005246065.1:c.4736G>C | XP_005246122.1:p.Arg1579Thr | |
| XM_005246066.1:c.4115G>C | XP_005246123.1:p.Arg1372Thr | |
| XM_006712253.1:c.4835G>C | XP_006712316.1:p.Arg1612Thr | |
| XM_011510574.1:c.5333G>C | XP_011508876.1:p.Arg1778Thr | |
| XM_011510575.1:c.2930G>C | XP_011508877.1:p.Arg977Thr | |
| XM_017003304.1:c.2930G>C | XP_016858793.1:p.Arg977Thr | |
| XM_024452684.1:c.4115G>C | XP_024308452.1:p.Arg1372Thr | |
| NM_004369.4:c.5336G>C MANE Select | NP_004360.2:p.Arg1779Thr | |
| NM_057166.5:c.3515G>C | NP_476507.3:p.Arg1172Thr | |
| NM_057167.4:c.4718G>C | NP_476508.2:p.Arg1573Thr |