Linked Data
ClinVar Variation Id:
2791654
ClinVar RCV Id:
RCV003598353
dbSNP Id:
rs1287411717
gnomAD v3:
17-31343150-T-C
gnomAD v4:
17-31343150-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31343150T>C , CM000679.2:g.31343150T>C | GRCh38 |
| NC_000017.10:g.29670168T>C , CM000679.1:g.29670168T>C | GRCh37 |
| NC_000017.9:g.26694294T>C | NCBI36 |
| NG_009018.1:g.253174T>C , LRG_214:g.253174T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.7171+15T>C | ENSP00000512431.1:n.7171+15T>C | |
| ENST00000684826.1:c.1753+15T>C | ENSP00000509994.1:n.1753+15T>C | |
| ENST00000687027.1:c.1345+15T>C | ENSP00000508715.1:n.1345+15T>C | |
| ENST00000687863.1:n.3834+15T>C | ||
| ENST00000689464.1:c.128+15T>C | ||
| ENST00000691014.1:c.7219+15T>C | ENSP00000510595.1:n.7219+15T>C | |
| ENST00000693617.1:c.1753+15T>C | ENSP00000510031.1:n.1753+15T>C | |
| ENST00000358273.9:c.7189+15T>C MANE Select | ENSP00000351015.4:n.7189+15T>C | |
| ENST00000356175.7:c.7126+15T>C | ENSP00000348498.3:n.7126+15T>C | |
| ENST00000358273.8:c.7189+15T>C | ENSP00000351015.4:n.7189+15T>C | |
| ENST00000456735.6:c.6124+15T>C | ENSP00000389907.2:n.6124+15T>C | |
| ENST00000471572.6:c.572+15T>C | ||
| ENST00000579081.5:c.7325+15T>C | ENSP00000462408.1:n.7325+15T>C | |
| ENST00000581790.5:c.332+15T>C | ||
| ENST00000582892.1:n.431+15T>C | ||
| NM_000267.3:c.7126+15T>C , LRG_214t1:c.7126+15T>C | NP_000258.1:n.7126+15T>C | |
| NM_001042492.2:c.7189+15T>C , LRG_214t2:c.7189+15T>C | NP_001035957.1:n.7189+15T>C | |
| XM_005257983.1:c.7189+15T>C | XP_005258040.1:n.7189+15T>C | |
| XM_005257984.1:c.7126+15T>C | XP_005258041.1:n.7126+15T>C | |
| XM_006721922.1:c.7219+15T>C | XP_006721985.1:n.7219+15T>C | |
| XM_006721923.2:c.7180+15T>C | XP_006721986.1:n.7180+15T>C | |
| XM_006721924.1:c.7219+15T>C | XP_006721987.1:n.7219+15T>C | |
| XM_006721925.1:c.7156+15T>C | XP_006721988.1:n.7156+15T>C | |
| XM_006721926.2:c.7219+15T>C | XP_006721989.1:n.7219+15T>C | |
| XM_006721927.1:c.7219+15T>C | XP_006721990.1:n.7219+15T>C | |
| XM_011524852.1:c.7216+15T>C | XP_011523154.1:n.7216+15T>C | |
| XM_011524853.1:c.7180+15T>C | XP_011523155.1:n.7180+15T>C | |
| XM_011524854.1:c.7180+15T>C | XP_011523156.1:n.7180+15T>C | |
| XM_011524855.1:c.7180+15T>C | XP_011523157.1:n.7180+15T>C | |
| XM_011524856.1:c.7180+15T>C | XP_011523158.1:n.7180+15T>C | |
| XM_011524857.1:c.7219+15T>C | XP_011523159.1:n.7219+15T>C | |
| NM_001042492.3:c.7189+15T>C MANE Select | NP_001035957.1:n.7189+15T>C |