Linked Data
ClinVar Variation Id:
381454
dbSNP Id:
rs2290297
ExAC:
12:57905612 A / G
gnomAD v2:
12-57905612-A-G
gnomAD v3:
12-57511829-A-G
gnomAD v4:
12-57511829-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57511829A>G , CM000674.2:g.57511829A>G | GRCh38 |
| NC_000012.11:g.57905612A>G , CM000674.1:g.57905612A>G | GRCh37 |
| NC_000012.10:g.56191879A>G | NCBI36 |
| NG_034077.1:g.28877A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262027.10:c.1500A>G MANE Select | ENSP00000262027.5:p.Lys500= | |
| ENST00000262027.9:c.1500A>G | ENSP00000262027.5:p.Lys500= | |
| ENST00000447721.6:n.1142A>G | ||
| ENST00000537638.6:c.1500A>G | ENSP00000446168.2:p.Lys500= | |
| ENST00000545888.6:c.*1001A>G | ENSP00000439307.2:n.*1001A>G | |
| ENST00000546971.5:n.244A>G | ||
| ENST00000548630.1:n.61A>G | ||
| ENST00000548944.1:c.134-4666A>G | ENSP00000449071.1:n.134-4666A>G | |
| ENST00000549048.1:n.33A>G | ||
| ENST00000628866.2:c.*1001A>G | ENSP00000486738.1:n.*1001A>G | |
| NM_004990.3:c.1500A>G | NP_004981.2:p.Lys500= | |
| XM_006719398.2:c.798A>G | XP_006719461.1:p.Lys266= | |
| XM_011538353.1:c.1500A>G | XP_011536655.1:p.Lys500= | |
| XM_006719398.4:c.798A>G | XP_006719461.1:p.Lys266= | |
| XR_001748704.2:n.1523A>G | ||
| XR_002957327.1:n.1447A>G | ||
| NM_004990.4:c.1500A>G MANE Select | NP_004981.2:p.Lys500= |