Linked Data
ClinVar Variation Id:
2304
ClinVar RCV Id:
RCV000002394
dbSNP Id:
rs119103254
PubMed:
PMID:8535454
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64753931A>G , CM000673.2:g.64753931A>G | GRCh38 |
| NC_000011.9:g.64521403A>G , CM000673.1:g.64521403A>G | GRCh37 |
| NC_000011.8:g.64277979A>G | NCBI36 |
| NG_013018.1:g.11785T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000164139.4:c.1187T>C MANE Select | ENSP00000164139.3:p.Leu396Pro | |
| ENST00000164139.3:c.1187T>C | ENSP00000164139.3:p.Leu396Pro | |
| ENST00000377432.7:c.923T>C | ENSP00000366650.3:p.Leu308Pro | |
| ENST00000460413.1:n.264T>C | ||
| NM_001164716.1:c.923T>C | NP_001158188.1:p.Leu308Pro | |
| NM_005609.2:c.1187T>C | NP_005600.1:p.Leu396Pro | |
| NM_005609.3:c.1187T>C | NP_005600.1:p.Leu396Pro | |
| NM_005609.4:c.1187T>C MANE Select | NP_005600.1:p.Leu396Pro |