Linked Data
ClinVar Variation Id:
232714
ClinVar RCV Id:
RCV000215735
RCV000632608
RCV001125914
RCV001125916
RCV001125915
RCV001589153
RCV001844092
dbSNP Id:
rs876659944
gnomAD v2:
17-29559196-G-A
gnomAD v3:
17-31232178-G-A
gnomAD v4:
17-31232178-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31232178G>A , CM000679.2:g.31232178G>A | GRCh38 |
| NC_000017.10:g.29559196G>A , CM000679.1:g.29559196G>A | GRCh37 |
| NC_000017.9:g.26583322G>A | NCBI36 |
| NG_009018.1:g.142202G>A , LRG_214:g.142202G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.3348G>A | ENSP00000512431.1:p.Gln1116= | |
| ENST00000696139.1:c.648G>A | ENSP00000512432.1:p.Gln216= | |
| ENST00000691014.1:c.3333G>A | ENSP00000510595.1:p.Gln1111= | |
| ENST00000693210.1:n.29G>A | ||
| ENST00000358273.9:c.3303G>A MANE Select | ENSP00000351015.4:p.Gln1101= | |
| ENST00000356175.7:c.3303G>A | ENSP00000348498.3:p.Gln1101= | |
| ENST00000358273.8:c.3303G>A | ENSP00000351015.4:p.Gln1101= | |
| ENST00000456735.6:c.2301G>A | ENSP00000389907.2:p.Gln767= | |
| ENST00000493220.5:n.1839G>A | ||
| ENST00000495910.6:c.3078G>A | ||
| ENST00000579081.5:c.3405G>A | ENSP00000462408.1:p.Gln1135= | |
| NM_000267.3:c.3303G>A , LRG_214t1:c.3303G>A | NP_000258.1:p.Gln1101= | |
| NM_001042492.2:c.3303G>A , LRG_214t2:c.3303G>A | NP_001035957.1:p.Gln1101= | |
| XM_005257983.1:c.3303G>A | XP_005258040.1:p.Gln1101= | |
| XM_005257984.1:c.3303G>A | XP_005258041.1:p.Gln1101= | |
| XM_006721922.1:c.3333G>A | XP_006721985.1:p.Gln1111= | |
| XM_006721923.2:c.3294G>A | XP_006721986.1:p.Gln1098= | |
| XM_006721924.1:c.3333G>A | XP_006721987.1:p.Gln1111= | |
| XM_006721925.1:c.3333G>A | XP_006721988.1:p.Gln1111= | |
| XM_006721926.2:c.3333G>A | XP_006721989.1:p.Gln1111= | |
| XM_006721927.1:c.3333G>A | XP_006721990.1:p.Gln1111= | |
| XM_006721928.2:c.3333G>A | XP_006721991.1:p.Gln1111= | |
| XM_011524852.1:c.3330G>A | XP_011523154.1:p.Gln1110= | |
| XM_011524853.1:c.3294G>A | XP_011523155.1:p.Gln1098= | |
| XM_011524854.1:c.3294G>A | XP_011523156.1:p.Gln1098= | |
| XM_011524855.1:c.3294G>A | XP_011523157.1:p.Gln1098= | |
| XM_011524856.1:c.3294G>A | XP_011523158.1:p.Gln1098= | |
| XM_011524857.1:c.3333G>A | XP_011523159.1:p.Gln1111= | |
| NM_001042492.3:c.3303G>A MANE Select | NP_001035957.1:p.Gln1101= |