Linked Data
ClinVar Variation Id:
185777
ClinVar RCV Id:
RCV000165261
RCV000205468
RCV000428670
RCV000515307
RCV000680330
RCV001122259
RCV001122261
RCV001122260
RCV002362857
dbSNP Id:
rs143836226
ExAC:
17:29562948 A / G
gnomAD v2:
17-29562948-A-G
gnomAD v3:
17-31235930-A-G
gnomAD v4:
17-31235930-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31235930A>G , CM000679.2:g.31235930A>G | GRCh38 |
| NC_000017.10:g.29562948A>G , CM000679.1:g.29562948A>G | GRCh37 |
| NC_000017.9:g.26587074A>G | NCBI36 |
| NG_009018.1:g.145954A>G , LRG_214:g.145954A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.3928A>G | ENSP00000512431.1:p.Thr1310Ala | |
| ENST00000696139.1:c.1228A>G | ENSP00000512432.1:p.Thr410Ala | |
| ENST00000687863.1:n.591A>G | ||
| ENST00000691014.1:c.3913A>G | ENSP00000510595.1:p.Thr1305Ala | |
| ENST00000358273.9:c.3883A>G MANE Select | ENSP00000351015.4:p.Thr1295Ala | |
| ENST00000356175.7:c.3883A>G | ENSP00000348498.3:p.Thr1295Ala | |
| ENST00000358273.8:c.3883A>G | ENSP00000351015.4:p.Thr1295Ala | |
| ENST00000456735.6:c.2881A>G | ENSP00000389907.2:p.Thr961Ala | |
| ENST00000466819.5:c.359A>G | ||
| ENST00000479614.1:c.359A>G | ||
| ENST00000493220.5:n.2419A>G | ||
| ENST00000495910.6:c.3658A>G | ||
| ENST00000579081.5:c.3985A>G | ENSP00000462408.1:p.Thr1329Ala | |
| NM_000267.3:c.3883A>G , LRG_214t1:c.3883A>G | NP_000258.1:p.Thr1295Ala | |
| NM_001042492.2:c.3883A>G , LRG_214t2:c.3883A>G | NP_001035957.1:p.Thr1295Ala | |
| XM_005257983.1:c.3883A>G | XP_005258040.1:p.Thr1295Ala | |
| XM_005257984.1:c.3883A>G | XP_005258041.1:p.Thr1295Ala | |
| XM_006721922.1:c.3913A>G | XP_006721985.1:p.Thr1305Ala | |
| XM_006721923.2:c.3874A>G | XP_006721986.1:p.Thr1292Ala | |
| XM_006721924.1:c.3913A>G | XP_006721987.1:p.Thr1305Ala | |
| XM_006721925.1:c.3913A>G | XP_006721988.1:p.Thr1305Ala | |
| XM_006721926.2:c.3913A>G | XP_006721989.1:p.Thr1305Ala | |
| XM_006721927.1:c.3913A>G | XP_006721990.1:p.Thr1305Ala | |
| XM_006721928.2:c.3913A>G | XP_006721991.1:p.Thr1305Ala | |
| XM_011524852.1:c.3910A>G | XP_011523154.1:p.Thr1304Ala | |
| XM_011524853.1:c.3874A>G | XP_011523155.1:p.Thr1292Ala | |
| XM_011524854.1:c.3874A>G | XP_011523156.1:p.Thr1292Ala | |
| XM_011524855.1:c.3874A>G | XP_011523157.1:p.Thr1292Ala | |
| XM_011524856.1:c.3874A>G | XP_011523158.1:p.Thr1292Ala | |
| XM_011524857.1:c.3913A>G | XP_011523159.1:p.Thr1305Ala | |
| NM_001042492.3:c.3883A>G MANE Select | NP_001035957.1:p.Thr1295Ala |