Linked Data
ClinVar Variation Id:
41910
ClinVar RCV Id:
RCV000210003
RCV000253393
RCV000300656
RCV000404978
RCV000357829
RCV000721732
RCV001086670
dbSNP Id:
rs147012990
ExAC:
19:39002893 T / C
gnomAD v2:
19-39002893-T-C
gnomAD v3:
19-38512253-T-C
gnomAD v4:
19-38512253-T-C
PubMed:
PMID:24195946
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38512253T>C , CM000681.2:g.38512253T>C | GRCh38 |
| NC_000019.9:g.39002893T>C , CM000681.1:g.39002893T>C | GRCh37 |
| NC_000019.8:g.43694733T>C | NCBI36 |
| NG_008866.1:g.83554T>C , LRG_766:g.83554T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599547.6:c.9181T>C | ENSP00000471601.2:n.9181T>C | |
| ENST00000359596.8:c.9242T>C MANE Select | ENSP00000352608.2:p.Met3081Thr | |
| ENST00000355481.8:c.9242T>C | ENSP00000347667.3:p.Met3081Thr | |
| ENST00000359596.7:c.9242T>C | ENSP00000352608.2:p.Met3081Thr | |
| ENST00000360985.7:c.9239T>C | ENSP00000354254.4:p.Met3080Thr | |
| ENST00000594335.5:c.2644T>C | ||
| ENST00000599547.5:c.49T>C | ||
| NM_000540.2:c.9242T>C , LRG_766t1:c.9242T>C | NP_000531.2:p.Met3081Thr | |
| NM_001042723.1:c.9242T>C | NP_001036188.1:p.Met3081Thr | |
| XM_006723317.1:c.9242T>C | XP_006723380.1:p.Met3081Thr | |
| XM_006723319.1:c.9242T>C | XP_006723382.1:p.Met3081Thr | |
| XM_011527204.1:c.9239T>C | XP_011525506.1:p.Met3080Thr | |
| XM_011527205.1:c.9242T>C | XP_011525507.1:p.Met3081Thr | |
| XM_006723317.2:c.9242T>C | XP_006723380.1:p.Met3081Thr | |
| XM_006723319.2:c.9242T>C | XP_006723382.1:p.Met3081Thr | |
| XM_011527205.2:c.9242T>C | XP_011525507.1:p.Met3081Thr | |
| XR_001753735.1:n.9275T>C | ||
| NM_000540.3:c.9242T>C MANE Select | NP_000531.2:p.Met3081Thr | |
| NM_001042723.2:c.9242T>C | NP_001036188.1:p.Met3081Thr |