Linked Data
ClinVar Variation Id:
457539
dbSNP Id:
rs1555612866
gnomAD v4:
17-31219119-G-A
COSMIC:
COSM24479
MutSpliceDB:
CA399002191
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31219119G>A , CM000679.2:g.31219119G>A | GRCh38 |
| NC_000017.10:g.29546137G>A , CM000679.1:g.29546137G>A | GRCh37 |
| NC_000017.9:g.26570263G>A | NCBI36 |
| NG_009018.1:g.129143G>A , LRG_214:g.129143G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.1686+1G>A | ENSP00000512431.1:n.1686+1G>A | |
| ENST00000686189.1:c.1086+1G>A | ENSP00000509682.1:n.1086+1G>A | |
| ENST00000691014.1:c.1671+1G>A | ENSP00000510595.1:n.1671+1G>A | |
| ENST00000358273.9:c.1641+1G>A MANE Select | ENSP00000351015.4:n.1641+1G>A | |
| ENST00000356175.7:c.1641+1G>A | ENSP00000348498.3:n.1641+1G>A | |
| ENST00000358273.8:c.1641+1G>A | ENSP00000351015.4:n.1641+1G>A | |
| ENST00000431387.8:c.1641+1G>A | ENSP00000412921.4:n.1641+1G>A | |
| ENST00000456735.6:c.639+1G>A | ENSP00000389907.2:n.639+1G>A | |
| ENST00000487476.5:n.2025G>A | ||
| ENST00000495910.6:c.1416+1G>A | ||
| ENST00000579081.5:c.1743+1G>A | ENSP00000462408.1:n.1743+1G>A | |
| NM_000267.3:c.1641+1G>A , LRG_214t1:c.1641+1G>A | NP_000258.1:n.1641+1G>A | |
| NM_001042492.2:c.1641+1G>A , LRG_214t2:c.1641+1G>A | NP_001035957.1:n.1641+1G>A | |
| NM_001128147.2:c.1641+1G>A | NP_001121619.1:n.1641+1G>A | |
| XM_005257983.1:c.1641+1G>A | XP_005258040.1:n.1641+1G>A | |
| XM_005257984.1:c.1641+1G>A | XP_005258041.1:n.1641+1G>A | |
| XM_006721922.1:c.1671+1G>A | XP_006721985.1:n.1671+1G>A | |
| XM_006721923.2:c.1632+1G>A | XP_006721986.1:n.1632+1G>A | |
| XM_006721924.1:c.1671+1G>A | XP_006721987.1:n.1671+1G>A | |
| XM_006721925.1:c.1671+1G>A | XP_006721988.1:n.1671+1G>A | |
| XM_006721926.2:c.1671+1G>A | XP_006721989.1:n.1671+1G>A | |
| XM_006721927.1:c.1671+1G>A | XP_006721990.1:n.1671+1G>A | |
| XM_006721928.2:c.1671+1G>A | XP_006721991.1:n.1671+1G>A | |
| XM_011524852.1:c.1671+1G>A | XP_011523154.1:n.1671+1G>A | |
| XM_011524853.1:c.1632+1G>A | XP_011523155.1:n.1632+1G>A | |
| XM_011524854.1:c.1632+1G>A | XP_011523156.1:n.1632+1G>A | |
| XM_011524855.1:c.1632+1G>A | XP_011523157.1:n.1632+1G>A | |
| XM_011524856.1:c.1632+1G>A | XP_011523158.1:n.1632+1G>A | |
| XM_011524857.1:c.1671+1G>A | XP_011523159.1:n.1671+1G>A | |
| NM_001042492.3:c.1641+1G>A MANE Select | NP_001035957.1:n.1641+1G>A | |
| NM_001128147.3:c.1641+1G>A | NP_001121619.1:n.1641+1G>A |