Linked Data
ClinVar Variation Id:
141711
ClinVar RCV Id:
RCV000130328
RCV000197840
RCV000680999
RCV001126022
RCV001126024
RCV001126023
RCV001824642
RCV002326844
RCV002498641
RCV004551254
dbSNP Id:
rs138227618
ExAC:
17:29585395 G / A
gnomAD v2:
17-29585395-G-A
gnomAD v3:
17-31258377-G-A
gnomAD v4:
17-31258377-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31258377G>A , CM000679.2:g.31258377G>A | GRCh38 |
| NC_000017.10:g.29585395G>A , CM000679.1:g.29585395G>A | GRCh37 |
| NC_000017.9:g.26609521G>A | NCBI36 |
| NG_009018.1:g.168401G>A , LRG_214:g.168401G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.4189G>A | ENSP00000512431.1:p.Gly1397Ser | |
| ENST00000696140.1:n.313G>A | ||
| ENST00000696141.1:c.198G>A | ||
| ENST00000687863.1:n.852G>A | ||
| ENST00000691014.1:c.4237G>A | ENSP00000510595.1:p.Gly1413Ser | |
| ENST00000691649.1:n.179G>A | ||
| ENST00000358273.9:c.4207G>A MANE Select | ENSP00000351015.4:p.Gly1403Ser | |
| ENST00000356175.7:c.4144G>A | ENSP00000348498.3:p.Gly1382Ser | |
| ENST00000358273.8:c.4207G>A | ENSP00000351015.4:p.Gly1403Ser | |
| ENST00000456735.6:c.3142G>A | ENSP00000389907.2:p.Gly1048Ser | |
| ENST00000466819.5:c.723G>A | ||
| ENST00000479614.1:c.660G>A | ||
| ENST00000493220.5:n.2680G>A | ||
| ENST00000579081.5:c.4246G>A | ENSP00000462408.1:p.Gly1416Ser | |
| NM_000267.3:c.4144G>A , LRG_214t1:c.4144G>A | NP_000258.1:p.Gly1382Ser | |
| NM_001042492.2:c.4207G>A , LRG_214t2:c.4207G>A | NP_001035957.1:p.Gly1403Ser | |
| XM_005257983.1:c.4207G>A | XP_005258040.1:p.Gly1403Ser | |
| XM_005257984.1:c.4144G>A | XP_005258041.1:p.Gly1382Ser | |
| XM_006721922.1:c.4237G>A | XP_006721985.1:p.Gly1413Ser | |
| XM_006721923.2:c.4198G>A | XP_006721986.1:p.Gly1400Ser | |
| XM_006721924.1:c.4237G>A | XP_006721987.1:p.Gly1413Ser | |
| XM_006721925.1:c.4174G>A | XP_006721988.1:p.Gly1392Ser | |
| XM_006721926.2:c.4237G>A | XP_006721989.1:p.Gly1413Ser | |
| XM_006721927.1:c.4237G>A | XP_006721990.1:p.Gly1413Ser | |
| XM_006721928.2:c.4237G>A | XP_006721991.1:p.Gly1413Ser | |
| XM_011524852.1:c.4234G>A | XP_011523154.1:p.Gly1412Ser | |
| XM_011524853.1:c.4198G>A | XP_011523155.1:p.Gly1400Ser | |
| XM_011524854.1:c.4198G>A | XP_011523156.1:p.Gly1400Ser | |
| XM_011524855.1:c.4198G>A | XP_011523157.1:p.Gly1400Ser | |
| XM_011524856.1:c.4198G>A | XP_011523158.1:p.Gly1400Ser | |
| XM_011524857.1:c.4237G>A | XP_011523159.1:p.Gly1413Ser | |
| NM_001042492.3:c.4207G>A MANE Select | NP_001035957.1:p.Gly1403Ser |