Linked Data
ClinVar Variation Id:
184188
ClinVar RCV Id:
RCV000163376
RCV000611445
RCV000679401
RCV001083474
RCV001122482
RCV001122483
RCV001122484
dbSNP Id:
rs141077224
ExAC:
17:29657461 G / A
gnomAD v2:
17-29657461-G-A
gnomAD v3:
17-31330443-G-A
gnomAD v4:
17-31330443-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31330443G>A , CM000679.2:g.31330443G>A | GRCh38 |
| NC_000017.10:g.29657461G>A , CM000679.1:g.29657461G>A | GRCh37 |
| NC_000017.9:g.26681587G>A | NCBI36 |
| NG_009018.1:g.240467G>A , LRG_214:g.240467G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000581113.7:c.1945G>A | ENSP00000492721.2:n.1945G>A | |
| ENST00000696138.1:c.5739G>A | ENSP00000512431.1:p.Glu1913= | |
| ENST00000684826.1:c.321G>A | ENSP00000509994.1:p.Glu107= | |
| ENST00000687027.1:c.-88G>A | ENSP00000508715.1:n.-88G>A | |
| ENST00000687863.1:n.2402G>A | ||
| ENST00000691014.1:c.5787G>A | ENSP00000510595.1:p.Glu1929= | |
| ENST00000693617.1:c.321G>A | ENSP00000510031.1:p.Glu107= | |
| ENST00000358273.9:c.5757G>A MANE Select | ENSP00000351015.4:p.Glu1919= | |
| ENST00000356175.7:c.5694G>A | ENSP00000348498.3:p.Glu1898= | |
| ENST00000358273.8:c.5757G>A | ENSP00000351015.4:p.Glu1919= | |
| ENST00000456735.6:c.4692G>A | ENSP00000389907.2:p.Glu1564= | |
| ENST00000479536.2:c.115G>A | ||
| ENST00000493220.5:n.4230G>A | ||
| ENST00000579081.5:c.5893G>A | ENSP00000462408.1:n.5893G>A | |
| ENST00000581113.6:n.1074G>A | ||
| NM_000267.3:c.5694G>A , LRG_214t1:c.5694G>A | NP_000258.1:p.Glu1898= | |
| NM_001042492.2:c.5757G>A , LRG_214t2:c.5757G>A | NP_001035957.1:p.Glu1919= | |
| XM_005257983.1:c.5757G>A | XP_005258040.1:p.Glu1919= | |
| XM_005257984.1:c.5694G>A | XP_005258041.1:p.Glu1898= | |
| XM_006721922.1:c.5787G>A | XP_006721985.1:p.Glu1929= | |
| XM_006721923.2:c.5748G>A | XP_006721986.1:p.Glu1916= | |
| XM_006721924.1:c.5787G>A | XP_006721987.1:p.Glu1929= | |
| XM_006721925.1:c.5724G>A | XP_006721988.1:p.Glu1908= | |
| XM_006721926.2:c.5787G>A | XP_006721989.1:p.Glu1929= | |
| XM_006721927.1:c.5787G>A | XP_006721990.1:p.Glu1929= | |
| XM_011524852.1:c.5784G>A | XP_011523154.1:p.Glu1928= | |
| XM_011524853.1:c.5748G>A | XP_011523155.1:p.Glu1916= | |
| XM_011524854.1:c.5748G>A | XP_011523156.1:p.Glu1916= | |
| XM_011524855.1:c.5748G>A | XP_011523157.1:p.Glu1916= | |
| XM_011524856.1:c.5748G>A | XP_011523158.1:p.Glu1916= | |
| XM_011524857.1:c.5787G>A | XP_011523159.1:p.Glu1929= | |
| NM_001042492.3:c.5757G>A MANE Select | NP_001035957.1:p.Glu1919= |