Linked Data
ClinVar Variation Id:
2194748
ClinVar RCV Id:
RCV002637302
dbSNP Id:
rs140891645
ExAC:
5:36985079 A / G
gnomAD v2:
5-36985079-A-G
gnomAD v3:
5-36984977-A-G
gnomAD v4:
5-36984977-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.36984977A>G , CM000667.2:g.36984977A>G | GRCh38 |
| NC_000005.9:g.36985079A>G , CM000667.1:g.36985079A>G | GRCh37 |
| NC_000005.8:g.37020836A>G | NCBI36 |
| NG_006987.1:g.113095A>G | |
| NG_006987.2:g.113095A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000282516.13:c.1797A>G MANE Select | ENSP00000282516.8:p.Thr599= | |
| ENST00000652901.1:c.1797A>G | ENSP00000499536.1:p.Thr599= | |
| ENST00000282516.12:c.1797A>G | ENSP00000282516.8:p.Thr599= | |
| ENST00000448238.2:c.1797A>G | ENSP00000406266.2:p.Thr599= | |
| ENST00000504430.5:n.1417A>G | ||
| ENST00000621733.1:c.1-79601A>G | ENSP00000480694.1:n.1-79601A>G | |
| NM_015384.4:c.1797A>G | NP_056199.2:p.Thr599= | |
| NM_133433.3:c.1797A>G | NP_597677.2:p.Thr599= | |
| XM_005248280.2:c.1797A>G | XP_005248337.1:p.Thr599= | |
| XM_005248282.3:c.1053A>G | XP_005248339.2:p.Thr351= | |
| XM_006714467.2:c.1797A>G | XP_006714530.1:p.Thr599= | |
| XM_006714468.1:c.1797A>G | XP_006714531.1:p.Thr599= | |
| XM_011514014.1:c.1797A>G | XP_011512316.1:p.Thr599= | |
| XM_011514015.1:c.1797A>G | XP_011512317.1:p.Thr599= | |
| XM_005248280.3:c.1797A>G | XP_005248337.1:p.Thr599= | |
| XM_005248282.5:c.1137A>G | XP_005248339.3:p.Thr379= | |
| XM_006714468.2:c.1797A>G | XP_006714531.1:p.Thr599= | |
| XM_017009329.1:c.1797A>G | XP_016864818.1:p.Thr599= | |
| XM_017009330.2:c.180A>G | XP_016864819.1:p.Thr60= | |
| XM_017009331.1:c.1495+8575A>G | XP_016864820.1:n.1495+8575A>G | |
| NM_133433.4:c.1797A>G MANE Select | NP_597677.2:p.Thr599= | |
| NM_015384.5:c.1797A>G | NP_056199.2:p.Thr599= |