Linked Data
ClinVar Variation Id:
481928
ClinVar RCV Id:
RCV002316619
dbSNP Id:
rs111842743
gnomAD v4:
17-31334851-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31334851A>G , CM000679.2:g.31334851A>G | GRCh38 |
| NC_000017.10:g.29661869A>G , CM000679.1:g.29661869A>G | GRCh37 |
| NC_000017.9:g.26685995A>G | NCBI36 |
| NG_009018.1:g.244875A>G , LRG_214:g.244875A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000581113.7:c.2014A>G | ENSP00000492721.2:n.2014A>G | |
| ENST00000696138.1:c.5808A>G | ENSP00000512431.1:p.Lys1936= | |
| ENST00000684826.1:c.390A>G | ENSP00000509994.1:p.Lys130= | |
| ENST00000687027.1:c.-19A>G | ENSP00000508715.1:n.-19A>G | |
| ENST00000687863.1:n.2471A>G | ||
| ENST00000691014.1:c.5856A>G | ENSP00000510595.1:p.Lys1952= | |
| ENST00000693617.1:c.390A>G | ENSP00000510031.1:p.Lys130= | |
| ENST00000358273.9:c.5826A>G MANE Select | ENSP00000351015.4:p.Lys1942= | |
| ENST00000356175.7:c.5763A>G | ENSP00000348498.3:p.Lys1921= | |
| ENST00000358273.8:c.5826A>G | ENSP00000351015.4:p.Lys1942= | |
| ENST00000456735.6:c.4761A>G | ENSP00000389907.2:p.Lys1587= | |
| ENST00000479536.2:c.251A>G | ||
| ENST00000579081.5:c.5962A>G | ENSP00000462408.1:n.5962A>G | |
| ENST00000581113.6:n.1143A>G | ||
| NM_000267.3:c.5763A>G , LRG_214t1:c.5763A>G | NP_000258.1:p.Lys1921= | |
| NM_001042492.2:c.5826A>G , LRG_214t2:c.5826A>G | NP_001035957.1:p.Lys1942= | |
| XM_005257983.1:c.5826A>G | XP_005258040.1:p.Lys1942= | |
| XM_005257984.1:c.5763A>G | XP_005258041.1:p.Lys1921= | |
| XM_006721922.1:c.5856A>G | XP_006721985.1:p.Lys1952= | |
| XM_006721923.2:c.5817A>G | XP_006721986.1:p.Lys1939= | |
| XM_006721924.1:c.5856A>G | XP_006721987.1:p.Lys1952= | |
| XM_006721925.1:c.5793A>G | XP_006721988.1:p.Lys1931= | |
| XM_006721926.2:c.5856A>G | XP_006721989.1:p.Lys1952= | |
| XM_006721927.1:c.5856A>G | XP_006721990.1:p.Lys1952= | |
| XM_011524852.1:c.5853A>G | XP_011523154.1:p.Lys1951= | |
| XM_011524853.1:c.5817A>G | XP_011523155.1:p.Lys1939= | |
| XM_011524854.1:c.5817A>G | XP_011523156.1:p.Lys1939= | |
| XM_011524855.1:c.5817A>G | XP_011523157.1:p.Lys1939= | |
| XM_011524856.1:c.5817A>G | XP_011523158.1:p.Lys1939= | |
| XM_011524857.1:c.5856A>G | XP_011523159.1:p.Lys1952= | |
| NM_001042492.3:c.5826A>G MANE Select | NP_001035957.1:p.Lys1942= |