Linked Data
ClinVar Variation Id:
44098
dbSNP Id:
rs11788754
ExAC:
9:71861685 G / A
gnomAD v2:
9-71861685-G-A
gnomAD v3:
9-69246769-G-A
gnomAD v4:
9-69246769-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.69246769G>A , CM000671.2:g.69246769G>A | GRCh38 |
| NC_000009.11:g.71861685G>A , CM000671.1:g.71861685G>A | GRCh37 |
| NC_000009.10:g.71051505G>A | NCBI36 |
| NG_016342.1:g.130462G>A | |
| NG_016342.2:g.150863G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000348208.9:c.2646G>A | ENSP00000345893.4:p.Ala882= | |
| ENST00000377245.9:c.2646G>A MANE Select | ENSP00000366453.4:p.Ala882= | |
| ENST00000498204.2:n.2083G>A | ||
| ENST00000535702.6:c.2658G>A | ENSP00000442090.1:p.Ala886= | |
| ENST00000539225.2:c.2739G>A | ENSP00000438262.1:p.Ala913= | |
| ENST00000636247.1:n.2725G>A | ||
| ENST00000636438.1:c.2823G>A | ENSP00000489860.1:p.Ala941= | |
| ENST00000642889.1:c.3033G>A | ENSP00000493780.1:p.Ala1011= | |
| ENST00000643352.1:c.*2834G>A | ENSP00000496488.1:n.*2834G>A | |
| ENST00000645088.1:c.*2953G>A | ENSP00000495447.1:n.*2953G>A | |
| ENST00000648042.1:c.1355G>A | ||
| ENST00000648087.1:n.2956G>A | ||
| ENST00000649114.1:c.2646G>A | ENSP00000497328.1:p.Ala882= | |
| ENST00000649134.1:c.2658G>A | ENSP00000498068.1:p.Ala886= | |
| ENST00000649783.1:n.2670G>A | ||
| ENST00000649927.1:n.191G>A | ||
| ENST00000649943.1:c.2646G>A | ENSP00000497539.1:p.Ala882= | |
| ENST00000650084.1:c.2649G>A | ENSP00000497861.1:p.Ala883= | |
| ENST00000650333.1:c.2577G>A | ENSP00000496791.1:p.Ala859= | |
| ENST00000650460.1:c.1840-6046G>A | ||
| ENST00000650522.1:n.2169G>A | ||
| ENST00000265384.11:c.2646G>A | ENSP00000265384.7:p.Ala882= | |
| ENST00000348208.8:c.2646G>A | ENSP00000345893.4:p.Ala882= | |
| ENST00000377245.8:c.2646G>A | ENSP00000366453.4:p.Ala882= | |
| ENST00000453658.6:c.2577G>A | ENSP00000392178.2:p.Ala859= | |
| ENST00000498204.1:n.544G>A | ||
| ENST00000535702.5:c.2658G>A | ENSP00000442090.1:p.Ala886= | |
| ENST00000539225.1:c.2739G>A | ENSP00000438262.1:p.Ala913= | |
| NM_001170414.2:c.2577G>A | NP_001163885.1:p.Ala859= | |
| NM_001170415.1:c.2658G>A | NP_001163886.1:p.Ala886= | |
| NM_001170416.1:c.2739G>A | NP_001163887.1:p.Ala913= | |
| NM_001170630.1:c.2646G>A | NP_001164101.1:p.Ala882= | |
| NM_004817.3:c.2646G>A | NP_004808.2:p.Ala882= | |
| NM_201629.3:c.2646G>A | NP_963923.1:p.Ala882= | |
| XM_005252314.1:c.2658G>A | XP_005252371.1:p.Ala886= | |
| XM_006717324.2:c.2640G>A | XP_006717387.1:p.Ala880= | |
| XM_011519204.1:c.2577G>A | XP_011517506.1:p.Ala859= | |
| XM_011519205.1:c.2577G>A | XP_011517507.1:p.Ala859= | |
| XM_011519206.1:c.2577G>A | XP_011517508.1:p.Ala859= | |
| XM_011519207.1:c.2577G>A | XP_011517509.1:p.Ala859= | |
| XM_011519208.1:c.2577G>A | XP_011517510.1:p.Ala859= | |
| XM_011519209.1:c.2577G>A | XP_011517511.1:p.Ala859= | |
| NM_004817.4:c.2646G>A MANE Select | NP_004808.2:p.Ala882= | |
| XM_005252314.2:c.2658G>A | XP_005252371.1:p.Ala886= | |
| XM_011519206.2:c.2577G>A | XP_011517508.1:p.Ala859= | |
| XM_011519207.2:c.2577G>A | XP_011517509.1:p.Ala859= | |
| XM_011519208.2:c.2577G>A | XP_011517510.1:p.Ala859= | |
| XM_011519209.2:c.2577G>A | XP_011517511.1:p.Ala859= | |
| XM_017015327.2:c.2646G>A | XP_016870816.1:p.Ala882= | |
| XM_017015328.1:c.2658G>A | XP_016870817.1:p.Ala886= | |
| NM_001170416.2:c.2739G>A | NP_001163887.1:p.Ala913= | |
| NM_001369870.1:c.2571G>A | NP_001356799.1:p.Ala857= | |
| NM_001369871.1:c.2577G>A | NP_001356800.1:p.Ala859= | |
| NM_001369872.1:c.2646G>A | NP_001356801.1:p.Ala882= | |
| NM_001369873.1:c.2646G>A | NP_001356802.1:p.Ala882= | |
| NM_001369874.1:c.2658G>A | NP_001356803.1:p.Ala886= | |
| NM_001369875.1:c.2658G>A | NP_001356804.1:p.Ala886= |