Linked Data
ClinVar Variation Id:
233847
ClinVar RCV Id:
RCV000221420
RCV000681085
RCV000546921
RCV003114391
RCV002327095
RCV003387812
RCV004547559
dbSNP Id:
rs376655102
ExAC:
17:29652945 C / T
gnomAD v2:
17-29652945-C-T
gnomAD v3:
17-31325927-C-T
gnomAD v4:
17-31325927-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31325927C>T , CM000679.2:g.31325927C>T | GRCh38 |
| NC_000017.10:g.29652945C>T , CM000679.1:g.29652945C>T | GRCh37 |
| NC_000017.9:g.26677071C>T | NCBI36 |
| NG_009018.1:g.235951C>T , LRG_214:g.235951C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000581113.7:c.1131C>T | ENSP00000492721.2:n.1131C>T | |
| ENST00000696138.1:c.4925C>T | ENSP00000512431.1:p.Thr1642Ile | |
| ENST00000684826.1:c.-494C>T | ENSP00000509994.1:n.-494C>T | |
| ENST00000687027.1:c.-561C>T | ENSP00000508715.1:n.-561C>T | |
| ENST00000687863.1:n.1588C>T | ||
| ENST00000691014.1:c.4973C>T | ENSP00000510595.1:p.Thr1658Ile | |
| ENST00000693617.1:c.-494C>T | ENSP00000510031.1:n.-494C>T | |
| ENST00000358273.9:c.4943C>T MANE Select | ENSP00000351015.4:p.Thr1648Ile | |
| ENST00000356175.7:c.4880C>T | ENSP00000348498.3:p.Thr1627Ile | |
| ENST00000358273.8:c.4943C>T | ENSP00000351015.4:p.Thr1648Ile | |
| ENST00000456735.6:c.3878C>T | ENSP00000389907.2:p.Thr1293Ile | |
| ENST00000493220.5:n.3416C>T | ||
| ENST00000579081.5:c.5079C>T | ENSP00000462408.1:n.5079C>T | |
| ENST00000581113.6:n.260C>T | ||
| NM_000267.3:c.4880C>T , LRG_214t1:c.4880C>T | NP_000258.1:p.Thr1627Ile | |
| NM_001042492.2:c.4943C>T , LRG_214t2:c.4943C>T | NP_001035957.1:p.Thr1648Ile | |
| XM_005257983.1:c.4943C>T | XP_005258040.1:p.Thr1648Ile | |
| XM_005257984.1:c.4880C>T | XP_005258041.1:p.Thr1627Ile | |
| XM_006721922.1:c.4973C>T | XP_006721985.1:p.Thr1658Ile | |
| XM_006721923.2:c.4934C>T | XP_006721986.1:p.Thr1645Ile | |
| XM_006721924.1:c.4973C>T | XP_006721987.1:p.Thr1658Ile | |
| XM_006721925.1:c.4910C>T | XP_006721988.1:p.Thr1637Ile | |
| XM_006721926.2:c.4973C>T | XP_006721989.1:p.Thr1658Ile | |
| XM_006721927.1:c.4973C>T | XP_006721990.1:p.Thr1658Ile | |
| XM_011524852.1:c.4970C>T | XP_011523154.1:p.Thr1657Ile | |
| XM_011524853.1:c.4934C>T | XP_011523155.1:p.Thr1645Ile | |
| XM_011524854.1:c.4934C>T | XP_011523156.1:p.Thr1645Ile | |
| XM_011524855.1:c.4934C>T | XP_011523157.1:p.Thr1645Ile | |
| XM_011524856.1:c.4934C>T | XP_011523158.1:p.Thr1645Ile | |
| XM_011524857.1:c.4973C>T | XP_011523159.1:p.Thr1658Ile | |
| NM_001042492.3:c.4943C>T MANE Select | NP_001035957.1:p.Thr1648Ile |