Linked Data
ClinVar Variation Id:
2919032
ClinVar RCV Id:
RCV003598837
gnomAD v4:
17-31357021-A-G
MyVariant Identifiers:
chr17:g.29684039A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31357021A>G , CM000679.2:g.31357021A>G | GRCh38 |
| NC_000017.10:g.29684039A>G , CM000679.1:g.29684039A>G | GRCh37 |
| NC_000017.9:g.26708165A>G | NCBI36 |
| NG_009018.1:g.267045A>G , LRG_214:g.267045A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.7782A>G | ENSP00000512431.1:p.Glu2594= | |
| ENST00000684826.1:c.2364A>G | ENSP00000509994.1:p.Glu788= | |
| ENST00000687027.1:c.1956A>G | ENSP00000508715.1:p.Glu652= | |
| ENST00000687863.1:n.4445A>G | ||
| ENST00000689464.1:c.850A>G | ||
| ENST00000691014.1:c.7830A>G | ENSP00000510595.1:p.Glu2610= | |
| ENST00000693617.1:c.2364A>G | ENSP00000510031.1:p.Glu788= | |
| ENST00000358273.9:c.7800A>G MANE Select | ENSP00000351015.4:p.Glu2600= | |
| ENST00000356175.7:c.7737A>G | ENSP00000348498.3:p.Glu2579= | |
| ENST00000358273.8:c.7800A>G | ENSP00000351015.4:p.Glu2600= | |
| ENST00000456735.6:c.6735A>G | ENSP00000389907.2:p.Glu2245= | |
| ENST00000471572.6:c.1183A>G | ||
| ENST00000577967.1:n.1218A>G | ||
| ENST00000579081.5:c.7936A>G | ENSP00000462408.1:n.7936A>G | |
| ENST00000581790.5:c.785A>G | ||
| NM_000267.3:c.7737A>G , LRG_214t1:c.7737A>G | NP_000258.1:p.Glu2579= | |
| NM_001042492.2:c.7800A>G , LRG_214t2:c.7800A>G | NP_001035957.1:p.Glu2600= | |
| XM_005257983.1:c.7800A>G | XP_005258040.1:p.Glu2600= | |
| XM_005257984.1:c.7737A>G | XP_005258041.1:p.Glu2579= | |
| XM_006721922.1:c.7830A>G | XP_006721985.1:p.Glu2610= | |
| XM_006721923.2:c.7791A>G | XP_006721986.1:p.Glu2597= | |
| XM_006721924.1:c.7830A>G | XP_006721987.1:p.Glu2610= | |
| XM_006721925.1:c.7767A>G | XP_006721988.1:p.Glu2589= | |
| XM_006721926.2:c.7830A>G | XP_006721989.1:p.Glu2610= | |
| XM_006721927.1:c.7830A>G | XP_006721990.1:p.Glu2610= | |
| XM_011524852.1:c.7827A>G | XP_011523154.1:p.Glu2609= | |
| XM_011524853.1:c.7791A>G | XP_011523155.1:p.Glu2597= | |
| XM_011524854.1:c.7791A>G | XP_011523156.1:p.Glu2597= | |
| XM_011524855.1:c.7791A>G | XP_011523157.1:p.Glu2597= | |
| XM_011524856.1:c.7791A>G | XP_011523158.1:p.Glu2597= | |
| XM_011524857.1:c.7707A>G | XP_011523159.1:p.Glu2569= | |
| NM_001042492.3:c.7800A>G MANE Select | NP_001035957.1:p.Glu2600= |