Linked Data
ClinVar Variation Id:
1076270
ClinVar RCV Id:
RCV001390129
dbSNP Id:
rs2069724442
gnomAD v3:
17-31338023-A-G
gnomAD v4:
17-31338023-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31338023A>G , CM000679.2:g.31338023A>G | GRCh38 |
| NC_000017.10:g.29665041A>G , CM000679.1:g.29665041A>G | GRCh37 |
| NC_000017.9:g.26689167A>G | NCBI36 |
| NG_009018.1:g.248047A>G , LRG_214:g.248047A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.6687-2A>G | ENSP00000512431.1:n.6687-2A>G | |
| ENST00000684826.1:c.1269-2A>G | ENSP00000509994.1:n.1269-2A>G | |
| ENST00000684998.1:n.1961A>G | ||
| ENST00000687027.1:c.861-2A>G | ENSP00000508715.1:n.861-2A>G | |
| ENST00000687863.1:n.3350-2A>G | ||
| ENST00000691014.1:c.6735-2A>G | ENSP00000510595.1:n.6735-2A>G | |
| ENST00000693617.1:c.1269-2A>G | ENSP00000510031.1:n.1269-2A>G | |
| ENST00000358273.9:c.6705-2A>G MANE Select | ENSP00000351015.4:n.6705-2A>G | |
| ENST00000356175.7:c.6642-2A>G | ENSP00000348498.3:n.6642-2A>G | |
| ENST00000358273.8:c.6705-2A>G | ENSP00000351015.4:n.6705-2A>G | |
| ENST00000456735.6:c.5640-2A>G | ENSP00000389907.2:n.5640-2A>G | |
| ENST00000471572.6:c.86A>G | ||
| ENST00000579081.5:c.6841-2A>G | ENSP00000462408.1:n.6841-2A>G | |
| ENST00000581790.5:c.64+143A>G | ||
| ENST00000584328.1:n.119-2A>G | ||
| NM_000267.3:c.6642-2A>G , LRG_214t1:c.6642-2A>G | NP_000258.1:n.6642-2A>G | |
| NM_001042492.2:c.6705-2A>G , LRG_214t2:c.6705-2A>G | NP_001035957.1:n.6705-2A>G | |
| XM_005257983.1:c.6705-2A>G | XP_005258040.1:n.6705-2A>G | |
| XM_005257984.1:c.6642-2A>G | XP_005258041.1:n.6642-2A>G | |
| XM_006721922.1:c.6735-2A>G | XP_006721985.1:n.6735-2A>G | |
| XM_006721923.2:c.6696-2A>G | XP_006721986.1:n.6696-2A>G | |
| XM_006721924.1:c.6735-2A>G | XP_006721987.1:n.6735-2A>G | |
| XM_006721925.1:c.6672-2A>G | XP_006721988.1:n.6672-2A>G | |
| XM_006721926.2:c.6735-2A>G | XP_006721989.1:n.6735-2A>G | |
| XM_006721927.1:c.6735-2A>G | XP_006721990.1:n.6735-2A>G | |
| XM_011524852.1:c.6732-2A>G | XP_011523154.1:n.6732-2A>G | |
| XM_011524853.1:c.6696-2A>G | XP_011523155.1:n.6696-2A>G | |
| XM_011524854.1:c.6696-2A>G | XP_011523156.1:n.6696-2A>G | |
| XM_011524855.1:c.6696-2A>G | XP_011523157.1:n.6696-2A>G | |
| XM_011524856.1:c.6696-2A>G | XP_011523158.1:n.6696-2A>G | |
| XM_011524857.1:c.6735-2A>G | XP_011523159.1:n.6735-2A>G | |
| NM_001042492.3:c.6705-2A>G MANE Select | NP_001035957.1:n.6705-2A>G |