Linked Data
ClinVar Variation Id:
217270
dbSNP Id:
rs748309520
ExAC:
16:89598311 G / A
gnomAD v2:
16-89598311-G-A
gnomAD v3:
16-89531903-G-A
gnomAD v4:
16-89531903-G-A
PubMed:
PMID:26626314
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89531903G>A , CM000678.2:g.89531903G>A | GRCh38 |
| NC_000016.9:g.89598311G>A , CM000678.1:g.89598311G>A | GRCh37 |
| NC_000016.8:g.88125812G>A | NCBI36 |
| NG_008082.1:g.28507G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268704.7:c.988-22G>A | ENSP00000268704.3:n.988-22G>A | |
| ENST00000561945.2:n.133-1G>A | ||
| ENST00000564409.2:c.1044-1G>A | ENSP00000495297.1:n.1044-1G>A | |
| ENST00000642334.1:c.861-1G>A | ||
| ENST00000642371.1:c.1067-1G>A | ||
| ENST00000642427.1:n.388-1G>A | ||
| ENST00000642436.1:n.389-9041G>A | ||
| ENST00000643105.1:c.908-1G>A | ||
| ENST00000643178.1:n.533-1G>A | ||
| ENST00000643307.1:c.988-1G>A | ENSP00000495673.1:n.988-1G>A | |
| ENST00000643345.1:c.*512-1G>A | ENSP00000493982.1:n.*512-1G>A | |
| ENST00000643370.1:c.325-560G>A | ENSP00000494895.1:n.325-560G>A | |
| ENST00000643496.1:n.805-1G>A | ||
| ENST00000643649.1:c.988-1G>A | ENSP00000494806.1:n.988-1G>A | |
| ENST00000643668.1:c.*1282-1G>A | ENSP00000494903.1:n.*1282-1G>A | |
| ENST00000643724.1:c.*497+1095G>A | ENSP00000496335.1:n.*497+1095G>A | |
| ENST00000643954.1:c.726-1G>A | ||
| ENST00000644171.1:n.961G>A | ||
| ENST00000644210.1:c.988-1G>A | ENSP00000495675.1:n.988-1G>A | |
| ENST00000644225.1:n.1005-1G>A | ||
| ENST00000644498.1:c.988-22G>A | ENSP00000496244.1:n.988-22G>A | |
| ENST00000644671.1:c.645-1G>A | ||
| ENST00000644748.1:n.2419-1G>A | ||
| ENST00000644751.1:c.390-1G>A | ||
| ENST00000644781.1:c.988-1G>A | ENSP00000495473.1:n.988-1G>A | |
| ENST00000644901.1:c.*941-1G>A | ENSP00000493797.1:n.*941-1G>A | |
| ENST00000645042.1:c.988-1G>A | ENSP00000493908.1:n.988-1G>A | |
| ENST00000645063.1:c.988-1G>A | ENSP00000493590.1:n.988-1G>A | |
| ENST00000645354.1:c.1748-1G>A | ||
| ENST00000645533.1:c.*117-1G>A | ENSP00000495690.1:n.*117-1G>A | |
| ENST00000645818.2:c.988-1G>A MANE Select | ENSP00000495795.2:n.988-1G>A | |
| ENST00000645886.1:c.215-1G>A | ||
| ENST00000645897.1:c.987+1095G>A | ENSP00000495293.1:n.987+1095G>A | |
| ENST00000645977.1:n.2106-1G>A | ||
| ENST00000646263.1:c.988-1G>A | ENSP00000494119.1:n.988-1G>A | |
| ENST00000646303.1:c.856-1G>A | ENSP00000494160.1:n.856-1G>A | |
| ENST00000646399.1:c.671-1G>A | ||
| ENST00000646445.1:c.183-12745G>A | ||
| ENST00000646454.1:n.710+946G>A | ||
| ENST00000646531.1:c.988-1G>A | ENSP00000495185.1:n.988-1G>A | |
| ENST00000646589.1:c.*116-1G>A | ENSP00000494739.1:n.*116-1G>A | |
| ENST00000646716.1:c.377-12745G>A | ENSP00000495593.1:n.377-12745G>A | |
| ENST00000646826.1:c.988-1G>A | ENSP00000495123.1:n.988-1G>A | |
| ENST00000646930.1:c.988-1G>A | ENSP00000495219.1:n.988-1G>A | |
| ENST00000646958.1:n.2032G>A | ||
| ENST00000647032.1:c.603-1G>A | ||
| ENST00000647079.1:c.580-1G>A | ENSP00000495967.1:n.580-1G>A | |
| ENST00000647227.1:c.751-1G>A | ||
| ENST00000268704.6:c.988-1G>A | ENSP00000268704.2:n.988-1G>A | |
| ENST00000341316.6:c.988-1G>A | ENSP00000341157.2:n.988-1G>A | |
| ENST00000561945.1:n.31G>A | ||
| ENST00000564409.1:n.447-1G>A | ||
| ENST00000620811.4:c.-589-1G>A | ENSP00000478030.1:n.-589-1G>A | |
| NM_003119.3:c.988-1G>A | NP_003110.1:n.988-1G>A | |
| NM_199367.2:c.988-1G>A | NP_955399.1:n.988-1G>A | |
| XM_005256321.3:c.988-1G>A | XP_005256378.1:n.988-1G>A | |
| XM_006721264.2:c.988-1G>A | XP_006721327.1:n.988-1G>A | |
| XM_011523306.1:c.988-1G>A | XP_011521608.1:n.988-1G>A | |
| XM_011523307.1:c.988-1G>A | XP_011521609.1:n.988-1G>A | |
| NM_001363850.1:c.988-1G>A | NP_001350779.1:n.988-1G>A | |
| XM_005256321.4:c.988-1G>A | XP_005256378.1:n.988-1G>A | |
| XM_006721264.4:c.988-1G>A | XP_006721327.1:n.988-1G>A | |
| XM_017023597.1:c.988-1G>A | XP_016879086.1:n.988-1G>A | |
| XM_017023598.1:c.988-1G>A | XP_016879087.1:n.988-1G>A | |
| XR_001751971.2:n.1027-1G>A | ||
| XR_001751972.2:n.1027-1G>A | ||
| NM_003119.4:c.988-1G>A MANE Select | NP_003110.1:n.988-1G>A | |
| NM_199367.3:c.988-1G>A | NP_955399.1:n.988-1G>A |