Linked Data
ClinVar Variation Id:
527668
ClinVar RCV Id:
RCV000632614
dbSNP Id:
rs876658990
gnomAD v3:
17-31261804-A-G
gnomAD v4:
17-31261804-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31261804A>G , CM000679.2:g.31261804A>G | GRCh38 |
| NC_000017.10:g.29588822A>G , CM000679.1:g.29588822A>G | GRCh37 |
| NC_000017.9:g.26612948A>G | NCBI36 |
| NG_009018.1:g.171828A>G , LRG_214:g.171828A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000581113.7:c.473A>G | ENSP00000492721.2:p.His158Arg | |
| ENST00000696138.1:c.4653A>G | ENSP00000512431.1:p.Thr1551= | |
| ENST00000696140.1:n.777A>G | ||
| ENST00000696141.1:c.662A>G | ||
| ENST00000687863.1:n.1316A>G | ||
| ENST00000691014.1:c.4701A>G | ENSP00000510595.1:p.Thr1567= | |
| ENST00000358273.9:c.4671A>G MANE Select | ENSP00000351015.4:p.Thr1557= | |
| ENST00000356175.7:c.4608A>G | ENSP00000348498.3:p.Thr1536= | |
| ENST00000358273.8:c.4671A>G | ENSP00000351015.4:p.Thr1557= | |
| ENST00000456735.6:c.3606A>G | ENSP00000389907.2:p.Thr1202= | |
| ENST00000493220.5:n.3144A>G | ||
| ENST00000579081.5:c.4710A>G | ENSP00000462408.1:p.Thr1570= | |
| NM_000267.3:c.4608A>G , LRG_214t1:c.4608A>G | NP_000258.1:p.Thr1536= | |
| NM_001042492.2:c.4671A>G , LRG_214t2:c.4671A>G | NP_001035957.1:p.Thr1557= | |
| XM_005257983.1:c.4671A>G | XP_005258040.1:p.Thr1557= | |
| XM_005257984.1:c.4608A>G | XP_005258041.1:p.Thr1536= | |
| XM_006721922.1:c.4701A>G | XP_006721985.1:p.Thr1567= | |
| XM_006721923.2:c.4662A>G | XP_006721986.1:p.Thr1554= | |
| XM_006721924.1:c.4701A>G | XP_006721987.1:p.Thr1567= | |
| XM_006721925.1:c.4638A>G | XP_006721988.1:p.Thr1546= | |
| XM_006721926.2:c.4701A>G | XP_006721989.1:p.Thr1567= | |
| XM_006721927.1:c.4701A>G | XP_006721990.1:p.Thr1567= | |
| XM_006721928.2:c.4701A>G | XP_006721991.1:p.Thr1567= | |
| XM_011524852.1:c.4698A>G | XP_011523154.1:p.Thr1566= | |
| XM_011524853.1:c.4662A>G | XP_011523155.1:p.Thr1554= | |
| XM_011524854.1:c.4662A>G | XP_011523156.1:p.Thr1554= | |
| XM_011524855.1:c.4662A>G | XP_011523157.1:p.Thr1554= | |
| XM_011524856.1:c.4662A>G | XP_011523158.1:p.Thr1554= | |
| XM_011524857.1:c.4701A>G | XP_011523159.1:p.Thr1567= | |
| NM_001042492.3:c.4671A>G MANE Select | NP_001035957.1:p.Thr1557= |