Linked Data
ClinVar Variation Id:
133108
ClinVar RCV Id:
RCV000119587
RCV001068141
RCV001705880
RCV002222020
RCV002222021
RCV002222022
RCV002222023
RCV002222024
RCV002222025
RCV002222026
RCV002477305
dbSNP Id:
rs193922772
gnomAD v4:
19-38457546-G-T
ERepo:
CA024313/MONDO:0007783/012
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38457546G>T , CM000681.2:g.38457546G>T | GRCh38 |
| NC_000019.9:g.38948186G>T , CM000681.1:g.38948186G>T | GRCh37 |
| NC_000019.8:g.43640026G>T | NCBI36 |
| NG_008866.1:g.28847G>T , LRG_766:g.28847G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000599547.6:c.1841G>T | ENSP00000471601.2:p.Arg614Leu | |
| ENST00000359596.8:c.1841G>T MANE Select | ENSP00000352608.2:p.Arg614Leu | |
| ENST00000355481.8:c.1841G>T | ENSP00000347667.3:p.Arg614Leu | |
| ENST00000359596.7:c.1841G>T | ENSP00000352608.2:p.Arg614Leu | |
| ENST00000360985.7:c.1841G>T | ENSP00000354254.4:p.Arg614Leu | |
| NM_000540.2:c.1841G>T , LRG_766t1:c.1841G>T | NP_000531.2:p.Arg614Leu | |
| NM_001042723.1:c.1841G>T | NP_001036188.1:p.Arg614Leu | |
| XM_006723317.1:c.1841G>T | XP_006723380.1:p.Arg614Leu | |
| XM_006723319.1:c.1841G>T | XP_006723382.1:p.Arg614Leu | |
| XM_011527204.1:c.1838G>T | XP_011525506.1:p.Arg613Leu | |
| XM_011527205.1:c.1841G>T | XP_011525507.1:p.Arg614Leu | |
| XM_006723317.2:c.1841G>T | XP_006723380.1:p.Arg614Leu | |
| XM_006723319.2:c.1841G>T | XP_006723382.1:p.Arg614Leu | |
| XM_011527205.2:c.1841G>T | XP_011525507.1:p.Arg614Leu | |
| XR_001753735.1:n.1924G>T | ||
| NM_000540.3:c.1841G>T MANE Select | NP_000531.2:p.Arg614Leu | |
| NM_001042723.2:c.1841G>T | NP_001036188.1:p.Arg614Leu |