Linked Data
ClinVar Variation Id:
184594
ClinVar RCV Id:
RCV000163873
RCV000206001
RCV000269925
RCV000266821
RCV000360964
RCV000604815
RCV000679394
dbSNP Id:
rs144091165
ExAC:
17:29592271 A / G
gnomAD v2:
17-29592271-A-G
gnomAD v3:
17-31265253-A-G
gnomAD v4:
17-31265253-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31265253A>G , CM000679.2:g.31265253A>G | GRCh38 |
| NC_000017.10:g.29592271A>G , CM000679.1:g.29592271A>G | GRCh37 |
| NC_000017.9:g.26616397A>G | NCBI36 |
| NG_009018.1:g.175277A>G , LRG_214:g.175277A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000581113.7:c.551A>G | ENSP00000492721.2:n.551A>G | |
| ENST00000696138.1:c.4731A>G | ENSP00000512431.1:p.Glu1577= | |
| ENST00000696140.1:n.855A>G | ||
| ENST00000696141.1:c.740A>G | ||
| ENST00000687863.1:n.1394A>G | ||
| ENST00000691014.1:c.4779A>G | ENSP00000510595.1:p.Glu1593= | |
| ENST00000358273.9:c.4749A>G MANE Select | ENSP00000351015.4:p.Glu1583= | |
| ENST00000356175.7:c.4686A>G | ENSP00000348498.3:p.Glu1562= | |
| ENST00000358273.8:c.4749A>G | ENSP00000351015.4:p.Glu1583= | |
| ENST00000456735.6:c.3684A>G | ENSP00000389907.2:p.Glu1228= | |
| ENST00000493220.5:n.3222A>G | ||
| ENST00000579081.5:c.4788A>G | ENSP00000462408.1:p.Glu1596= | |
| NM_000267.3:c.4686A>G , LRG_214t1:c.4686A>G | NP_000258.1:p.Glu1562= | |
| NM_001042492.2:c.4749A>G , LRG_214t2:c.4749A>G | NP_001035957.1:p.Glu1583= | |
| XM_005257983.1:c.4749A>G | XP_005258040.1:p.Glu1583= | |
| XM_005257984.1:c.4686A>G | XP_005258041.1:p.Glu1562= | |
| XM_006721922.1:c.4779A>G | XP_006721985.1:p.Glu1593= | |
| XM_006721923.2:c.4740A>G | XP_006721986.1:p.Glu1580= | |
| XM_006721924.1:c.4779A>G | XP_006721987.1:p.Glu1593= | |
| XM_006721925.1:c.4716A>G | XP_006721988.1:p.Glu1572= | |
| XM_006721926.2:c.4779A>G | XP_006721989.1:p.Glu1593= | |
| XM_006721927.1:c.4779A>G | XP_006721990.1:p.Glu1593= | |
| XM_006721928.2:c.4779A>G | XP_006721991.1:p.Glu1593= | |
| XM_011524852.1:c.4776A>G | XP_011523154.1:p.Glu1592= | |
| XM_011524853.1:c.4740A>G | XP_011523155.1:p.Glu1580= | |
| XM_011524854.1:c.4740A>G | XP_011523156.1:p.Glu1580= | |
| XM_011524855.1:c.4740A>G | XP_011523157.1:p.Glu1580= | |
| XM_011524856.1:c.4740A>G | XP_011523158.1:p.Glu1580= | |
| XM_011524857.1:c.4779A>G | XP_011523159.1:p.Glu1593= | |
| NM_001042492.3:c.4749A>G MANE Select | NP_001035957.1:p.Glu1583= |