Linked Data
ClinVar Variation Id:
231988
dbSNP Id:
rs770558820
ExAC:
17:29652944 A / G
gnomAD v2:
17-29652944-A-G
gnomAD v3:
17-31325926-A-G
gnomAD v4:
17-31325926-A-G
PubMed:
PMID:23913538
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31325926A>G , CM000679.2:g.31325926A>G | GRCh38 |
| NC_000017.10:g.29652944A>G , CM000679.1:g.29652944A>G | GRCh37 |
| NC_000017.9:g.26677070A>G | NCBI36 |
| NG_009018.1:g.235950A>G , LRG_214:g.235950A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000581113.7:c.1130A>G | ENSP00000492721.2:n.1130A>G | |
| ENST00000696138.1:c.4924A>G | ENSP00000512431.1:p.Thr1642Ala | |
| ENST00000684826.1:c.-495A>G | ENSP00000509994.1:n.-495A>G | |
| ENST00000687027.1:c.-562A>G | ENSP00000508715.1:n.-562A>G | |
| ENST00000687863.1:n.1587A>G | ||
| ENST00000691014.1:c.4972A>G | ENSP00000510595.1:p.Thr1658Ala | |
| ENST00000693617.1:c.-495A>G | ENSP00000510031.1:n.-495A>G | |
| ENST00000358273.9:c.4942A>G MANE Select | ENSP00000351015.4:p.Thr1648Ala | |
| ENST00000356175.7:c.4879A>G | ENSP00000348498.3:p.Thr1627Ala | |
| ENST00000358273.8:c.4942A>G | ENSP00000351015.4:p.Thr1648Ala | |
| ENST00000456735.6:c.3877A>G | ENSP00000389907.2:p.Thr1293Ala | |
| ENST00000493220.5:n.3415A>G | ||
| ENST00000579081.5:c.5078A>G | ENSP00000462408.1:n.5078A>G | |
| ENST00000581113.6:n.259A>G | ||
| NM_000267.3:c.4879A>G , LRG_214t1:c.4879A>G | NP_000258.1:p.Thr1627Ala | |
| NM_001042492.2:c.4942A>G , LRG_214t2:c.4942A>G | NP_001035957.1:p.Thr1648Ala | |
| XM_005257983.1:c.4942A>G | XP_005258040.1:p.Thr1648Ala | |
| XM_005257984.1:c.4879A>G | XP_005258041.1:p.Thr1627Ala | |
| XM_006721922.1:c.4972A>G | XP_006721985.1:p.Thr1658Ala | |
| XM_006721923.2:c.4933A>G | XP_006721986.1:p.Thr1645Ala | |
| XM_006721924.1:c.4972A>G | XP_006721987.1:p.Thr1658Ala | |
| XM_006721925.1:c.4909A>G | XP_006721988.1:p.Thr1637Ala | |
| XM_006721926.2:c.4972A>G | XP_006721989.1:p.Thr1658Ala | |
| XM_006721927.1:c.4972A>G | XP_006721990.1:p.Thr1658Ala | |
| XM_011524852.1:c.4969A>G | XP_011523154.1:p.Thr1657Ala | |
| XM_011524853.1:c.4933A>G | XP_011523155.1:p.Thr1645Ala | |
| XM_011524854.1:c.4933A>G | XP_011523156.1:p.Thr1645Ala | |
| XM_011524855.1:c.4933A>G | XP_011523157.1:p.Thr1645Ala | |
| XM_011524856.1:c.4933A>G | XP_011523158.1:p.Thr1645Ala | |
| XM_011524857.1:c.4972A>G | XP_011523159.1:p.Thr1658Ala | |
| NM_001042492.3:c.4942A>G MANE Select | NP_001035957.1:p.Thr1648Ala |