Linked Data
ClinVar Variation Id:
185493
dbSNP Id:
rs764877783
ExAC:
17:29579952 G / A
gnomAD v2:
17-29579952-G-A
gnomAD v3:
17-31252934-G-A
gnomAD v4:
17-31252934-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31252934G>A , CM000679.2:g.31252934G>A | GRCh38 |
| NC_000017.10:g.29579952G>A , CM000679.1:g.29579952G>A | GRCh37 |
| NC_000017.9:g.26604078G>A | NCBI36 |
| NG_009018.1:g.162958G>A , LRG_214:g.162958G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.4155+3815G>A | ENSP00000512431.1:n.4155+3815G>A | |
| ENST00000696139.1:c.1574-4G>A | ENSP00000512432.1:n.1574-4G>A | |
| ENST00000696140.1:n.217-4G>A | ||
| ENST00000696141.1:c.3-4G>A | ||
| ENST00000687863.1:n.818+3815G>A | ||
| ENST00000691014.1:c.4141-4G>A | ENSP00000510595.1:n.4141-4G>A | |
| ENST00000358273.9:c.4111-4G>A MANE Select | ENSP00000351015.4:n.4111-4G>A | |
| ENST00000356175.7:c.4110+3815G>A | ENSP00000348498.3:n.4110+3815G>A | |
| ENST00000358273.8:c.4111-4G>A | ENSP00000351015.4:n.4111-4G>A | |
| ENST00000456735.6:c.3108+3815G>A | ENSP00000389907.2:n.3108+3815G>A | |
| ENST00000466819.5:c.587-4G>A | ||
| ENST00000479614.1:c.586+3815G>A | ||
| ENST00000493220.5:n.2646+3815G>A | ||
| ENST00000495910.6:c.6865G>A | ||
| ENST00000579081.5:c.4212+3815G>A | ENSP00000462408.1:n.4212+3815G>A | |
| NM_000267.3:c.4110+3815G>A , LRG_214t1:c.4110+3815G>A | NP_000258.1:n.4110+3815G>A | |
| NM_001042492.2:c.4111-4G>A , LRG_214t2:c.4111-4G>A | NP_001035957.1:n.4111-4G>A | |
| XM_005257983.1:c.4111-4G>A | XP_005258040.1:n.4111-4G>A | |
| XM_005257984.1:c.4110+3815G>A | XP_005258041.1:n.4110+3815G>A | |
| XM_006721922.1:c.4141-4G>A | XP_006721985.1:n.4141-4G>A | |
| XM_006721923.2:c.4102-4G>A | XP_006721986.1:n.4102-4G>A | |
| XM_006721924.1:c.4141-4G>A | XP_006721987.1:n.4141-4G>A | |
| XM_006721925.1:c.4140+3815G>A | XP_006721988.1:n.4140+3815G>A | |
| XM_006721926.2:c.4141-4G>A | XP_006721989.1:n.4141-4G>A | |
| XM_006721927.1:c.4141-4G>A | XP_006721990.1:n.4141-4G>A | |
| XM_006721928.2:c.4141-4G>A | XP_006721991.1:n.4141-4G>A | |
| XM_011524852.1:c.4138-4G>A | XP_011523154.1:n.4138-4G>A | |
| XM_011524853.1:c.4102-4G>A | XP_011523155.1:n.4102-4G>A | |
| XM_011524854.1:c.4102-4G>A | XP_011523156.1:n.4102-4G>A | |
| XM_011524855.1:c.4102-4G>A | XP_011523157.1:n.4102-4G>A | |
| XM_011524856.1:c.4102-4G>A | XP_011523158.1:n.4102-4G>A | |
| XM_011524857.1:c.4141-4G>A | XP_011523159.1:n.4141-4G>A | |
| NM_001042492.3:c.4111-4G>A MANE Select | NP_001035957.1:n.4111-4G>A |