Linked Data
ClinVar Variation Id:
334902
dbSNP Id:
rs1135791
ExAC:
2:231042276 A / G
gnomAD v2:
2-231042276-A-G
gnomAD v3:
2-230177560-A-G
gnomAD v4:
2-230177560-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.230177560A>G , CM000664.2:g.230177560A>G | GRCh38 |
| NC_000002.11:g.231042276A>G , CM000664.1:g.231042276A>G | GRCh37 |
| NC_000002.10:g.230750520A>G | NCBI36 |
| NG_008295.1:g.47552T>C , LRG_109:g.47552T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000462232.2:c.959T>C | ENSP00000513566.1:p.Met320Thr | |
| ENST00000489597.2:c.1568T>C | ENSP00000513565.1:p.Met523Thr | |
| ENST00000698099.1:c.1568T>C | ENSP00000513563.1:p.Met523Thr | |
| ENST00000698100.1:c.1418T>C | ENSP00000513564.1:p.Met473Thr | |
| ENST00000698101.1:n.290T>C | ||
| ENST00000698102.1:n.2384T>C | ||
| ENST00000698103.1:c.1418T>C | ENSP00000513567.1:p.Met473Thr | |
| ENST00000258381.11:c.1568T>C MANE Select | ENSP00000258381.6:p.Met523Thr | |
| ENST00000258382.10:c.1568T>C | ENSP00000258382.5:p.Met523Thr | |
| ENST00000358662.9:c.1568T>C | ENSP00000351488.4:p.Met523Thr | |
| ENST00000540870.5:c.1586T>C | ENSP00000439558.1:p.Met529Thr | |
| ENST00000258381.10:c.1568T>C | ENSP00000258381.6:p.Met523Thr | |
| ENST00000258382.9:c.1568T>C | ENSP00000258382.5:p.Met523Thr | |
| ENST00000358662.8:c.1568T>C | ENSP00000351488.4:p.Met523Thr | |
| ENST00000392048.7:c.1562T>C | ENSP00000375902.3:p.Met521Thr | |
| ENST00000489597.1:n.222T>C | ||
| ENST00000540870.4:c.1586T>C | ENSP00000439558.1:p.Met529Thr | |
| NM_001185015.1:c.1586T>C | NP_001171944.1:p.Met529Thr | |
| NM_004509.3:c.1568T>C | NP_004500.3:p.Met523Thr | |
| NM_004510.3:c.1568T>C | NP_004501.3:p.Met523Thr | |
| NM_080424.2:c.1568T>C , LRG_109t1:c.1568T>C | NP_536349.2:p.Met523Thr | |
| XM_005246525.2:c.1586T>C | XP_005246582.1:p.Met529Thr | |
| XM_006712487.2:c.1586T>C | XP_006712550.1:p.Met529Thr | |
| XM_006712489.2:c.1586T>C | XP_006712552.1:p.Met529Thr | |
| XM_011511088.1:c.1586T>C | XP_011509390.1:p.Met529Thr | |
| XM_011511089.1:c.1568T>C | XP_011509391.1:p.Met523Thr | |
| XM_011511090.1:c.1436T>C | XP_011509392.1:p.Met479Thr | |
| XM_011511091.1:c.1586T>C | XP_011509393.1:p.Met529Thr | |
| XM_011511092.1:c.959T>C | XP_011509394.1:p.Met320Thr | |
| XM_005246525.4:c.1586T>C | XP_005246582.1:p.Met529Thr | |
| XM_006712487.3:c.1586T>C | XP_006712550.1:p.Met529Thr | |
| XM_006712489.4:c.1586T>C | XP_006712552.1:p.Met529Thr | |
| XM_011511088.3:c.1586T>C | XP_011509390.1:p.Met529Thr | |
| XM_011511089.3:c.1568T>C | XP_011509391.1:p.Met523Thr | |
| XM_011511090.3:c.1436T>C | XP_011509392.1:p.Met479Thr | |
| XM_011511091.3:c.1586T>C | XP_011509393.1:p.Met529Thr | |
| XM_011511092.3:c.959T>C | XP_011509394.1:p.Met320Thr | |
| XM_017003968.2:c.1586T>C | XP_016859457.1:p.Met529Thr | |
| XM_017003969.1:c.1436T>C | XP_016859458.1:p.Met479Thr | |
| XM_024452850.1:c.1436T>C | XP_024308618.1:p.Met479Thr | |
| XM_024452851.1:c.1418T>C | XP_024308619.1:p.Met473Thr | |
| NM_001185015.2:c.1586T>C | NP_001171944.1:p.Met529Thr | |
| NM_004509.4:c.1568T>C | NP_004500.4:p.Met523Thr | |
| NM_004510.4:c.1568T>C | NP_004501.4:p.Met523Thr | |
| NM_080424.3:c.1568T>C | NP_536349.3:p.Met523Thr | |
| NM_001378442.1:c.1586T>C | NP_001365371.1:p.Met529Thr | |
| NM_001378443.1:c.1568T>C | NP_001365372.1:p.Met523Thr | |
| NM_001378444.1:c.1586T>C | NP_001365373.1:p.Met529Thr | |
| NM_001378445.1:c.1586T>C | NP_001365374.1:p.Met529Thr | |
| NM_001378446.1:c.1586T>C | NP_001365375.1:p.Met529Thr | |
| NM_001378447.1:c.1418T>C | NP_001365376.1:p.Met473Thr | |
| NM_004509.5:c.1568T>C | NP_004500.4:p.Met523Thr | |
| NM_080424.4:c.1568T>C MANE Select | NP_536349.3:p.Met523Thr |