Linked Data
ClinVar Variation Id:
12968
ClinVar RCV Id:
RCV000013835
RCV000119453
RCV001787718
RCV001787715
RCV001787717
RCV001787712
RCV001787713
RCV001787714
RCV001787716
RCV003231102
RCV003591629
dbSNP Id:
rs118192116
ExAC:
19:38942490 C / G
gnomAD v2:
19-38942490-C-G
gnomAD v4:
19-38451850-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38451850C>G , CM000681.2:g.38451850C>G | GRCh38 |
| NC_000019.9:g.38942490C>G , CM000681.1:g.38942490C>G | GRCh37 |
| NC_000019.8:g.43634330C>G | NCBI36 |
| NG_008866.1:g.23151C>G , LRG_766:g.23151C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599547.6:c.1209C>G | ENSP00000471601.2:p.Ile403Met | |
| ENST00000359596.8:c.1209C>G MANE Select | ENSP00000352608.2:p.Ile403Met | |
| ENST00000355481.8:c.1209C>G | ENSP00000347667.3:p.Ile403Met | |
| ENST00000359596.7:c.1209C>G | ENSP00000352608.2:p.Ile403Met | |
| ENST00000360985.7:c.1209C>G | ENSP00000354254.4:p.Ile403Met | |
| NM_000540.2:c.1209C>G , LRG_766t1:c.1209C>G | NP_000531.2:p.Ile403Met | |
| NM_001042723.1:c.1209C>G | NP_001036188.1:p.Ile403Met | |
| XM_006723317.1:c.1209C>G | XP_006723380.1:p.Ile403Met | |
| XM_006723319.1:c.1209C>G | XP_006723382.1:p.Ile403Met | |
| XM_011527204.1:c.1206C>G | XP_011525506.1:p.Ile402Met | |
| XM_011527205.1:c.1209C>G | XP_011525507.1:p.Ile403Met | |
| XM_006723317.2:c.1209C>G | XP_006723380.1:p.Ile403Met | |
| XM_006723319.2:c.1209C>G | XP_006723382.1:p.Ile403Met | |
| XM_011527205.2:c.1209C>G | XP_011525507.1:p.Ile403Met | |
| XR_001753735.1:n.1292C>G | ||
| NM_000540.3:c.1209C>G MANE Select | NP_000531.2:p.Ile403Met | |
| NM_001042723.2:c.1209C>G | NP_001036188.1:p.Ile403Met |