Linked Data
ClinVar Variation Id:
38152
ClinVar RCV Id:
RCV000031735
RCV000045471
RCV000130334
RCV000586134
RCV000769681
RCV001082295
RCV001353723
dbSNP Id:
rs28897705
ExAC:
13:32906446 T / G
gnomAD v2:
13-32906446-T-G
gnomAD v3:
13-32332309-T-G
gnomAD v4:
13-32332309-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32332309T>G , CM000675.2:g.32332309T>G | GRCh38 |
| NC_000013.10:g.32906446T>G , CM000675.1:g.32906446T>G | GRCh37 |
| NC_000013.9:g.31804446T>G | NCBI36 |
| NG_012772.3:g.21830T>G , LRG_293:g.21830T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.831T>G | ENSP00000434898.2:p.Asn277Lys | |
| ENST00000528762.2:c.831T>G | ENSP00000433168.2:p.Asn277Lys | |
| ENST00000530893.7:c.462T>G | ENSP00000499438.2:p.Asn154Lys | |
| ENST00000665585.2:c.831T>G | ENSP00000499570.2:p.Asn277Lys | |
| ENST00000666593.2:c.831T>G | ENSP00000499256.2:p.Asn277Lys | |
| ENST00000700202.2:c.831T>G | ENSP00000514856.2:p.Asn277Lys | |
| ENST00000700201.1:c.*610T>G | ENSP00000514855.1:n.*610T>G | |
| ENST00000380152.8:c.831T>G MANE Select | ENSP00000369497.3:p.Asn277Lys | |
| ENST00000544455.6:c.831T>G | ENSP00000439902.1:p.Asn277Lys | |
| ENST00000614259.2:c.831T>G | ENSP00000506251.1:p.Asn277Lys | |
| ENST00000680887.1:c.831T>G | ENSP00000505508.1:p.Asn277Lys | |
| ENST00000380152.7:c.831T>G | ENSP00000369497.3:p.Asn277Lys | |
| ENST00000530893.6:n.1029T>G | ||
| ENST00000544455.5:c.831T>G | ENSP00000439902.1:p.Asn277Lys | |
| ENST00000614259.1:n.831T>G | ||
| NM_000059.3:c.831T>G , LRG_293t1:c.831T>G | NP_000050.2:p.Asn277Lys | |
| XM_011535203.1:c.831T>G | XP_011533505.1:p.Asn277Lys | |
| XM_011535204.1:c.831T>G | XP_011533506.1:p.Asn277Lys | |
| XM_011535205.1:c.831T>G | XP_011533507.1:p.Asn277Lys | |
| NM_000059.4:c.831T>G MANE Select | NP_000050.3:p.Asn277Lys |