Linked Data
ClinVar Variation Id:
140751
ClinVar RCV Id:
RCV000128859
dbSNP Id:
rs587777576
PubMed:
PMID:24995871
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162282558G>A , CM000664.2:g.162282558G>A | GRCh38 |
| NC_000002.11:g.163139068G>A , CM000664.1:g.163139068G>A | GRCh37 |
| NC_000002.10:g.162847314G>A | NCBI36 |
| NG_011495.1:g.40972C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697291.1:c.*711C>T | ENSP00000513228.1:n.*711C>T | |
| ENST00000648433.1:c.1114C>T | ENSP00000496816.1:p.Leu372Phe | |
| ENST00000649554.1:n.724C>T | ||
| ENST00000649979.2:c.1114C>T MANE Select | ENSP00000497271.1:p.Leu372Phe | |
| ENST00000679938.1:c.802C>T | ENSP00000505518.1:p.Leu268Phe | |
| ENST00000263642.2:c.1114C>T | ENSP00000263642.2:p.Leu372Phe | |
| NM_022168.3:c.1114C>T | NP_071451.2:p.Leu372Phe | |
| XM_011511628.1:c.397C>T | XP_011509930.1:p.Leu133Phe | |
| XM_011511629.1:c.1114C>T | XP_011509931.1:p.Leu372Phe | |
| NM_022168.4:c.1114C>T MANE Select | NP_071451.2:p.Leu372Phe |